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

dbVar

Database of genomic structural variation

nsv4042743

Organism: Homo sapiens

Study:nstd166 (gnomAD Structural Variants)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:177,301

Publication(s):gnomAD_Structural_Variants

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: 14 SVs from 3 studies. See in: genome view

Remapped(Score: Perfect):22,879,803-23,057,103

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4042743	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	22,879,803	23,057,103
nsv4042743	Submitted genomic		GRCh37.p13	Primary Assembly		NC_000024.9	ChrY	25,025,950	25,203,250

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv15991013	duplication	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15991013	Remapped	Perfect	NC_000024.10:g.228 79803_23057103dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,879,803	23,057,103
nssv15991013	Submitted genomic		NC_000024.9:g.2502 5950_25203250dup	GRCh37.p13		NC_000024.9	ChrY	25,025,950	25,203,250

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv15991013	0.012	129	10978

You are here: NCBI