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dbVar

Database of genomic structural variation

nsv6305267

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:6,434

Description:nsv5461211 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: 132 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):52,932,611-52,939,044

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305267	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	52,932,611	52,939,044
nsv6305267	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	52,797,409	52,803,842

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17667806	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17667806	Remapped	Perfect	NC_000006.12:g.529 32611_52939044del	GRCh38.p12	First Pass	NC_000006.12	Chr6	52,932,611	52,939,044
nssv17667806	Submitted genomic		NC_000006.11:g.527 97409_52803842del	GRCh37 (hg19)		NC_000006.11	Chr6	52,797,409	52,803,842

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)
nssv17667806	0.272	1744	6404

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