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dbVar

Database of genomic structural variation

nsv4457197

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:7,405,177

Description:GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)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: 23682 SVs from 129 studies. See in: genome view

Remapped(Score: Perfect):19,495,088-26,900,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	19,495,088	26,900,264
nsv4457197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	20,069,228	27,474,401

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775628	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000847640.2, VCV000686932.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775628	Remapped	Perfect	NC_000013.11:g.(?_ 19495088)_(2690026 4_?)dup	GRCh38.p12	First Pass	NC_000013.11	Chr13	19,495,088	26,900,264
nssv15775628	Submitted genomic		NC_000013.10:g.(?_ 20069228)_(2747440 1_?)dup	GRCh37 (hg19)		NC_000013.10	Chr13	20,069,228	27,474,401

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
nssv15775628	GRCh37: NC_000013.10:g.(?_20069228)_(27474401_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000847640.2, VCV000686932.2	3

No genotype data were submitted for this variant

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