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dbVar

Database of genomic structural variation

nsv6121102

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:2,791

Description:nsv5476994 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: 323 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):154,222,090-154,224,880

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121102	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	154,222,090	154,224,880
nsv6121102	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	153,919,175	153,921,965

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17671283	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17671283	Remapped	Perfect	NC_000007.14:g.154 222090_154224880de l	GRCh38.p12	First Pass	NC_000007.14	Chr7	154,222,090	154,224,880
nssv17671283	Submitted genomic		NC_000007.13:g.153 919175_153921965de l	GRCh37 (hg19)		NC_000007.13	Chr7	153,919,175	153,921,965

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)
nssv17671283	0.332	2125	6394

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