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dbVar

Database of genomic structural variation

nsv4458037

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:tandem duplication
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:4,079

Description:
Single allele AND Hereditary cancer-predisposing syndrome
Publication(s):Hampel et al. 2014

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: 82 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):132,927,800-132,931,878

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
nsv4458037	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	132,927,800	132,927,804	132,931,874	132,931,878
nsv4458037	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	135,803,187	135,803,191	135,807,261	135,807,265

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15776766	tandem duplication	Multiple	Multiple	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Uncertain significance	ClinVar	RCV000850068.1, VCV000689362.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15776766	Remapped	Perfect	NC_000009.12:g.(13 2927800_132927804) _(132931874_132931 878)dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	132,927,800	132,927,804	132,931,874	132,931,878
nssv15776766	Submitted genomic		NC_000009.11:g.(13 5803187_135803191) _(135807261_135807 265)dup	GRCh37 (hg19)		NC_000009.11	Chr9	135,803,187	135,803,191	135,807,261	135,807,265

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
nssv15776766	GRCh37: NC_000009.11:g.(135803187_135803191)_(135807261_135807265)dup	tandem duplication	germline	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Uncertain significance	ClinVar	RCV000850068.1, VCV000689362.1

No genotype data were submitted for this variant

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