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dbVar

Database of genomic structural variation

nsv3896487

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:25,174,012

Description:GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 AND See cases

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: 76004 SVs from 133 studies. See in: genome view

Remapped(Score: Good):89,143,856-114,317,867

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3896487	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	89,143,856	114,317,867
nsv3896487	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	89,796,110	115,083,342

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15149122	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000240161.2, VCV000253491.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15149122	Remapped	Good	NC_000013.11:g.(?_ 89143856)_(1143178 67_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	89,143,856	114,317,867
nssv15149122	Submitted genomic		NC_000013.10:g.(?_ 89796110)_(1150833 42_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	89,796,110	115,083,342

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
nssv15149122	GRCh37: NC_000013.10:g.(?_89796110)_(115083342_?)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV000240161.2, VCV000253491.2	1

No genotype data were submitted for this variant

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