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dbVar

Database of genomic structural variation

nsv6306204

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:329

Description:nsv6145216 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 30 studies. See in: genome view

Remapped(Score: Perfect):41,894,748-41,895,076

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6306204	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	41,894,748	41,895,076
nsv6306204	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	42,398,821	42,399,149

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959274	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959274	Remapped	Perfect	NC_000019.10:g.418 94748_41895076del	GRCh38.p12	First Pass	NC_000019.10	Chr19	41,894,748	41,895,076
nssv17959274	Submitted genomic		NC_000019.9:g.4239 8821_42399149del	GRCh37 (hg19)		NC_000019.9	Chr19	42,398,821	42,399,149

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)
nssv17959274	0.071	453	6404

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