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dbVar

Database of genomic structural variation

nsv6303304

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:421

Description:nsv5456735 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: 128 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):6,649,942-6,650,362

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6303304	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	6,649,942	6,650,362
nsv6303304	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	6,650,175	6,650,595

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17666289	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17666289	Remapped	Perfect	NC_000006.12:g.664 9942_6650362dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	6,649,942	6,650,362
nssv17666289	Submitted genomic		NC_000006.11:g.665 0175_6650595dup	GRCh37 (hg19)		NC_000006.11	Chr6	6,650,175	6,650,595

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)
nssv17666289	1	6086	6086

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