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dbVar

Database of genomic structural variation

nsv5660843

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):Ebert et al. 2021

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: 139 SVs from 27 studies. See in: genome view

Submitted genomic123,609,634-123,609,634

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5660843	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	123,609,634	123,609,634
nsv5660843	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	124,094,181	124,094,181

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077284	insertion	SAMN00001229	Sequencing	Sequence alignment	1,149

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077284	Submitted genomic		NC_000012.12:g.123 609634_123609635in s83	GRCh38 (hg38)		NC_000012.12	Chr12	123,609,634	123,609,634
nssv17077284	Remapped	Perfect	NC_000012.11:g.124 094181_124094182in s83	GRCh37.p13	First Pass	NC_000012.11	Chr12	124,094,181	124,094,181

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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