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dbVar

Database of genomic structural variation

nsv6112793

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:2,772,067

Description:GRCh37/hg19 22q11.21(chr22:18889693-21465485)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: 9927 SVs from 131 studies. See in: genome view

Remapped(Score: Pass):18,339,130-21,111,196

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112793	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	18,339,130	21,111,196
nsv6112793	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	18,889,693	21,465,485

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649858	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537920.4, VCV001180538.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17649858	Remapped	Pass	NC_000022.11:g.183 39130_21111196del	GRCh38.p12	First Pass	NC_000022.11	Chr22	18,339,130	21,111,196
nssv17649858	Submitted genomic		NC_000022.10:g.188 89693_21465485del	GRCh37 (hg19)		NC_000022.10	Chr22	18,889,693	21,465,485

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
nssv17649858	GRCh37: NC_000022.10:g.18889693_21465485del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537920.4, VCV001180538.4	1

No genotype data were submitted for this variant

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