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dbVar

Database of genomic structural variation

nsv6125734

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:70

Description:nsv5530439 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: 202 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):82,596,479-82,596,548

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6125734	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	82,596,479	82,596,548
nsv6125734	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	80,554,355	80,554,424

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17965169	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17965169	Remapped	Perfect	NC_000017.11:g.825 96479_82596548dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	82,596,479	82,596,548
nssv17965169	Submitted genomic		NC_000017.10:g.805 54355_80554424dup	GRCh37 (hg19)		NC_000017.10	Chr17	80,554,355	80,554,424

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)
nssv17965169	0.736	4711	6404

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