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

dbVar

Database of genomic structural variation

nsv6124386

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:185

Description:nsv5526337 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: 189 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):54,305,498-54,305,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6124386	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	54,305,498	54,305,682
nsv6124386	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	51,831,868	51,832,052

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958598	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958598	Remapped	Perfect	NC_000018.10:g.543 05498_54305682del	GRCh38.p12	First Pass	NC_000018.10	Chr18	54,305,498	54,305,682
nssv17958598	Submitted genomic		NC_000018.9:g.5183 1868_51832052del	GRCh37 (hg19)		NC_000018.9	Chr18	51,831,868	51,832,052

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)
nssv17958598	0.136	869	6404

You are here: NCBI