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dbVar

Database of genomic structural variation

nsv6127307

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:295

Description:nsv5532807 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: 163 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):60,368,999-60,369,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6127307	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	60,368,999	60,369,293
nsv6127307	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	58,446,360	58,446,654

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958109	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958109	Remapped	Perfect	NC_000017.11:g.603 68999_60369293del	GRCh38.p12	First Pass	NC_000017.11	Chr17	60,368,999	60,369,293
nssv17958109	Submitted genomic		NC_000017.10:g.584 46360_58446654del	GRCh37 (hg19)		NC_000017.10	Chr17	58,446,360	58,446,654

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)
nssv17958109	0.047	302	6404

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