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dbVar

Database of genomic structural variation

nsv6301726

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:1,990

Description:nsv5456529 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: 152 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):116,748,521-116,750,510

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301726	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	116,748,521	116,750,510
nsv6301726	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	117,069,684	117,071,673

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17674032	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17674032	Remapped	Perfect	NC_000006.12:g.116 748521_116750510de l	GRCh38.p12	First Pass	NC_000006.12	Chr6	116,748,521	116,750,510
nssv17674032	Submitted genomic		NC_000006.11:g.117 069684_117071673de l	GRCh37 (hg19)		NC_000006.11	Chr6	117,069,684	117,071,673

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)
nssv17674032	0.255	1634	6404

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