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dbVar

Database of genomic structural variation

nsv4436237

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:1,896,399

Description:dup(11)(q13.1q13.1) AND Ependymoma

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: 5319 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):63,765,807-65,662,205

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4436237	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	63,765,807	65,662,205
nsv4436237	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	63,533,279	65,429,676

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15754967	duplication	Multiple	Multiple	Ependymoma; Ependymoma; Ependymoma	Likely pathogenic	ClinVar	RCV000785872.1, VCV000634998.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15754967	Remapped	Perfect	NC_000011.10:g.637 65807_65662205dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	63,765,807	65,662,205
nssv15754967	Submitted genomic		NC_000011.9:g.6353 3279_65429676dup	GRCh37 (hg19)		NC_000011.9	Chr11	63,533,279	65,429,676

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
nssv15754967	GRCh37: NC_000011.9:g.63533279_65429676dup	duplication	somatic	Ependymoma; Ependymoma; Ependymoma	Likely pathogenic	ClinVar	RCV000785872.1, VCV000634998.1

No genotype data were submitted for this variant

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