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dbVar

Database of genomic structural variation

nsv3895427

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:470,063

Description:GRCh37/hg19 13q21.1(chr13:55523778-55993840)x1 AND not provided

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: 1488 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):54,949,643-55,419,705

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895427	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	54,949,643	55,419,705
nsv3895427	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	55,523,778	55,993,840

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15171297	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000750727.2, VCV000614091.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15171297	Remapped	Perfect	NC_000013.11:g.(?_ 54949643)_(5541970 5_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	54,949,643	55,419,705
nssv15171297	Submitted genomic		NC_000013.10:g.(?_ 55523778)_(5599384 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	55,523,778	55,993,840

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15171297	GRCh37: NC_000013.10:g.(?_55523778)_(55993840_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000750727.2, VCV000614091.2	1

No genotype data were submitted for this variant

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