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dbVar

Database of genomic structural variation

nsv6112819

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:9,637

Description:GRCh37/hg19 22q11.1(chr22:17670832-17680468)x0 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: 92 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):17,189,942-17,199,578

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6112819	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	17,189,942	17,199,578
nsv6112819	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	17,670,832	17,680,468

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17649993	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001531384.9, VCV001176015.10	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17649993	Remapped	Perfect	NC_000022.11:g.(?_ 17189942)_(1719957 8_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	17,189,942	17,199,578
nssv17649993	Submitted genomic		NC_000022.10:g.(?_ 17670832)_(1768046 8_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	17,670,832	17,680,468

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
nssv17649993	GRCh37: NC_000022.10:g.(?_17670832)_(17680468_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV001531384.9, VCV001176015.10	0

No genotype data were submitted for this variant

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