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dbVar

Database of genomic structural variation

nsv3908959

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:30,316,492

Description:GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)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: 82393 SVs from 138 studies. See in: genome view

Remapped(Score: Good):87,196-30,403,687

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3908959	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	87,196	87,196	30,403,687	30,403,687
nsv3908959	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	67,837	80,198	26,208,081	29,638,363

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161655	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000487461.2, VCV000424642.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15161655	Remapped	Good	NC_000020.11:g.(87 196_87196)_(304036 87_30403687)dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	87,196	87,196	30,403,687	30,403,687
nssv15161655	Submitted genomic		NC_000020.10:g.(67 837_80198)_(262080 81_29638363)dup	GRCh37 (hg19)		NC_000020.10	Chr20	67,837	80,198	26,208,081	29,638,363

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
nssv15161655	GRCh37: NC_000020.10:g.(67837_80198)_(26208081_29638363)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000487461.2, VCV000424642.2	3

No genotype data were submitted for this variant

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