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dbVar

Database of genomic structural variation

nsv6304269

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:287

Description:nsv5461351 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: 141 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):31,619,318-31,619,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6304269	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,619,318	31,619,604
nsv6304269	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	31,587,095	31,587,381

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17961738	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17961738	Remapped	Perfect	NC_000006.12:g.316 19318_31619604del	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,619,318	31,619,604
nssv17961738	Submitted genomic		NC_000006.11:g.315 87095_31587381del	GRCh37 (hg19)		NC_000006.11	Chr6	31,587,095	31,587,381

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)
nssv17961738	0.056	359	6378

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