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dbVar

Database of genomic structural variation

nsv6634428

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:1,720,888

Description:GRCh37/hg19 21q22.3(chr21:45808650-47529568)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: 9844 SVs from 107 studies. See in: genome view

Remapped(Score: Good):44,388,767-46,109,654

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6634428	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	44,388,767	46,109,654
nsv6634428	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	45,808,650	47,529,568

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18326463	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002291533.3, VCV001710511.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18326463	Remapped	Good	NC_000021.9:g.4438 8767_46109654del	GRCh38.p12	First Pass	NC_000021.9	Chr21	44,388,767	46,109,654
nssv18326463	Submitted genomic		NC_000021.8:g.4580 8650_47529568del	GRCh37 (hg19)		NC_000021.8	Chr21	45,808,650	47,529,568

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
nssv18326463	GRCh37: NC_000021.8:g.45808650_47529568del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV002291533.3, VCV001710511.3	1

No genotype data were submitted for this variant

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