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dbVar

Database of genomic structural variation

nsv6637284

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:554,250

Description:GRCh37/hg19 13q14.11(chr13:43163676-43717925)x3 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: 1842 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):42,589,540-43,143,789

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637284	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	42,589,540	43,143,789
nsv6637284	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	43,163,676	43,717,925

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329939	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473671.1, VCV001808354.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329939	Remapped	Perfect	NC_000013.11:g.(?_ 42589540)_(4314378 9_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	42,589,540	43,143,789
nssv18329939	Submitted genomic		NC_000013.10:g.(?_ 43163676)_(4371792 5_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	43,163,676	43,717,925

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
nssv18329939	GRCh37: NC_000013.10:g.(?_43163676)_(43717925_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002473671.1, VCV001808354.1	3

No genotype data were submitted for this variant

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