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dbVar

Database of genomic structural variation

nsv4458073

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:553,270

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: 2340 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):1,516,499-2,069,768

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4458073	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	1,516,499	2,069,768
nsv4458073	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	1,566,500	2,119,769

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15773668	inversion	Multiple	Multiple	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Uncertain significance	ClinVar	RCV000850149.1, VCV000689437.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15773668	Remapped	Perfect	NC_000016.10:g.151 6499_2069768inv	GRCh38.p12	First Pass	NC_000016.10	Chr16	1,516,499	2,069,768
nssv15773668	Submitted genomic		NC_000016.9:g.1566 500_2119769inv	GRCh37 (hg19)		NC_000016.9	Chr16	1,566,500	2,119,769

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
nssv15773668	GRCh37: NC_000016.9:g.1566500_2119769inv	inversion	germline	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Uncertain significance	ClinVar	RCV000850149.1, VCV000689437.1

No genotype data were submitted for this variant

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