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dbVar

Database of genomic structural variation

nsv4675255

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:2,361,161

Description:GRCh37/hg19 13q12.11(chr13:20668070-23029230)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: 7761 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):20,093,931-22,455,091

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675255	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	20,093,931	22,455,091
nsv4675255	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	20,668,070	23,029,230

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16208360	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001006546.1, VCV000815569.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16208360	Remapped	Perfect	NC_000013.11:g.(?_ 20093931)_(2245509 1_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	20,093,931	22,455,091
nssv16208360	Submitted genomic		NC_000013.10:g.(?_ 20668070)_(2302923 0_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	20,668,070	23,029,230

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
nssv16208360	GRCh37: NC_000013.10:g.(?_20668070)_(23029230_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001006546.1, VCV000815569.1	1

No genotype data were submitted for this variant

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