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

dbVar

Database of genomic structural variation

nsv6306388

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:10,719

Description:nsv6144717 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: 71 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):90,142,682-90,153,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6306388	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	90,142,682	90,153,400
nsv6306388	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	90,209,090	90,219,808

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968562	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968562	Remapped	Perfect	NC_000016.10:g.901 42682_90153400dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	90,142,682	90,153,400
nssv17968562	Submitted genomic		NC_000016.9:g.9020 9090_90219808dup	GRCh37 (hg19)		NC_000016.9	Chr16	90,209,090	90,219,808

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)
nssv17968562	0.155	415	2686

You are here: NCBI