Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5565037

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:1,502

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: 199 SVs from 43 studies. See in: genome view

Submitted genomic177,011,077-177,012,578

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5565037	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	177,011,077	177,012,578
nsv5565037	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	176,438,078	176,439,579

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17125508	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17125508	Submitted genomic		NC_000005.10:g.177 011077_177012578de lG	GRCh38 (hg38)		NC_000005.10	Chr5	177,011,077	177,012,578
nssv17125508	Remapped	Perfect	NC_000005.9:g.1764 38078_176439579del G	GRCh37.p13	First Pass	NC_000005.9	Chr5	176,438,078	176,439,579

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.

You are here: NCBI