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dbVar

Database of genomic structural variation

nsv5576285

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:398

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: 211 SVs from 33 studies. See in: genome view

Submitted genomic45,709,596-45,709,993

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576285	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	45,709,596	45,709,993
nsv5576285	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	46,175,268	46,175,665

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17065503	deletion	SAMN00006580	Sequencing	Sequence alignment	9,409

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17065503	Submitted genomic		NC_000001.11:g.457 09596_45709993delA	GRCh38 (hg38)		NC_000001.11	Chr1	45,709,596	45,709,993
nssv17065503	Remapped	Perfect	NC_000001.10:g.461 75268_46175665delA	GRCh37.p13	First Pass	NC_000001.10	Chr1	46,175,268	46,175,665

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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