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dbVar

Database of genomic structural variation

nsv6296001

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:52

Description:nsv6140245 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: 116 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):190,842,946-190,842,997

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6296001	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	190,842,946	190,842,997
nsv6296001	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	190,560,735	190,560,786

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17665170	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17665170	Remapped	Perfect	NC_000003.12:g.190 842946_190842997du p	GRCh38.p12	First Pass	NC_000003.12	Chr3	190,842,946	190,842,997
nssv17665170	Submitted genomic		NC_000003.11:g.190 560735_190560786du p	GRCh37 (hg19)		NC_000003.11	Chr3	190,560,735	190,560,786

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)
nssv17665170	0.036	217	6096

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