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dbVar

Database of genomic structural variation

nsv6290264

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:3,063,829

Description:GRCh37/hg19 10p11.23-11.22(chr10:30624523-33688350)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: 7699 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):30,335,594-33,399,422

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290264	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	30,335,594	33,399,422
nsv6290264	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	30,624,523	33,688,350

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955945	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001795544.4, VCV001328108.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955945	Remapped	Perfect	NC_000010.11:g.303 35594_33399422del	GRCh38.p12	First Pass	NC_000010.11	Chr10	30,335,594	33,399,422
nssv17955945	Submitted genomic		NC_000010.10:g.306 24523_33688350del	GRCh37 (hg19)		NC_000010.10	Chr10	30,624,523	33,688,350

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
nssv17955945	GRCh37: NC_000010.10:g.30624523_33688350del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001795544.4, VCV001328108.4	1

No genotype data were submitted for this variant

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