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dbVar

Database of genomic structural variation

nsv6301253

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:175

Description:nsv5476208 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: 173 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):142,669,534-142,669,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301253	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	142,669,534	142,669,708
nsv6301253	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	143,750,952	143,751,126

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17654859	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17654859	Remapped	Perfect	NC_000008.11:g.142 669534_142669708de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	142,669,534	142,669,708
nssv17654859	Submitted genomic		NC_000008.10:g.143 750952_143751126de l	GRCh37 (hg19)		NC_000008.10	Chr8	143,750,952	143,751,126

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)
nssv17654859	0.035	225	6394

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