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dbVar

Database of genomic structural variation

nsv6301214

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:112

Description:nsv5493587 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: 119 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):87,857,803-87,857,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301214	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	87,857,803	87,857,914
nsv6301214	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	90,472,718	90,472,829

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17675040	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17675040	Remapped	Perfect	NC_000009.12:g.878 57803_87857914dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	87,857,803	87,857,914
nssv17675040	Submitted genomic		NC_000009.11:g.904 72718_90472829dup	GRCh37 (hg19)		NC_000009.11	Chr9	90,472,718	90,472,829

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)
nssv17675040	0.488	3126	6404

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