nsv3418703

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:307

Description:Absence of a Alu insertion that is present in the reference
Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 220 SVs from 55 studies. See in: genome view

Submitted genomic88,379,980-88,380,286

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3418703	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	88,379,980	88,380,286
nsv3418703	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14695582	alu deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14698369	alu deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14698583	alu deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14703532	alu deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14705624	alu deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14706929	alu deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14713111	alu deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14715850	alu deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14716413	alu deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14723656	alu deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14727549	alu deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14728421	alu deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14729726	alu deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14729728	alu deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14695582	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14698369	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14698583	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14703532	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14705624	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14706929	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14713111	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14715850	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14716413	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14723656	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14727549	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14728421	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14729726	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14729728	Submitted genomic		NC_000008.11:g.883 79980_88380286del	GRCh38 (hg38)		NC_000008.11	Chr8	88,379,980	88,380,286
nssv14695582	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14698369	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14698583	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14703532	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14705624	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14706929	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14713111	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14715850	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14716413	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14723656	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14727549	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14728421	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14729726	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515
nssv14729728	Remapped	Perfect	NC_000008.10:g.893 92209_89392515delN C_000008.10:g.8939 2209_89392515del	GRCh37.p13	First Pass	NC_000008.10	Chr8	89,392,209	89,392,515

Showing 28 of 42

dbVar

Database of genomic structural variation

nsv3418703

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant