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

dbVar

Database of genomic structural variation

nsv5391790

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:920

Description:nsv5013730 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 157 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):43,638,939-43,639,858

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5391790	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	43,638,939	43,639,858
nsv5391790	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	41,716,307	41,717,226

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16878893	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16878893	Remapped	Perfect	NC_000017.11:g.436 38939_43639858dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	43,638,939	43,639,858
nssv16878893	Submitted genomic		NC_000017.10:g.417 16307_41717226dup	GRCh37 (hg19)		NC_000017.10	Chr17	41,716,307	41,717,226

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16878893	0.011	333	29246

You are here: NCBI