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

dbVar

Database of genomic structural variation

nsv6121447

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:51

Description:nsv5525160 from Byrska-Bishop et. al 2021. 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: 92 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):24,058,901-24,058,951

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121447	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	24,058,901	24,058,951
nsv6121447	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	24,070,222	24,070,272

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17964813	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17964813	Remapped	Perfect	NC_000016.10:g.240 58901_24058951del	GRCh38.p12	First Pass	NC_000016.10	Chr16	24,058,901	24,058,951
nssv17964813	Submitted genomic		NC_000016.9:g.2407 0222_24070272del	GRCh37 (hg19)		NC_000016.9	Chr16	24,070,222	24,070,272

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)
nssv17964813	0.272	1698	6236

You are here: NCBI