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dbVar

Database of genomic structural variation

nsv6120330

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:103

Description:nsv5460253 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: 104 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):142,596,676-142,596,778

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6120330	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	142,596,676	142,596,778
nsv6120330	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	141,976,241	141,976,343

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17668413	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17668413	Remapped	Perfect	NC_000005.10:g.142 596676_142596778de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	142,596,676	142,596,778
nssv17668413	Submitted genomic		NC_000005.9:g.1419 76241_141976343del	GRCh37 (hg19)		NC_000005.9	Chr5	141,976,241	141,976,343

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)
nssv17668413	0.414	2647	6404

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