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dbVar

Database of genomic structural variation

nsv7098779

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,664

Description:Single allele AND Breast-ovarian cancer, familial, susceptibility to, 1
Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, Moyer et al. 2014, Nelson et al. 2013, Nelson et al. 2019, No authors et al. 2014, No authors et al. 2021, Petrucelli et al. 1998, Phillips et al. 2013, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019

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: 143 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):43,061,062-43,063,725

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7098779	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	43,061,062	43,063,725
nsv7098779	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	41,213,079	41,215,742

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792596	complex substitution	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003155994.1, VCV001713199.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18792596	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	43,061,062	43,063,725
nssv18792596	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	41,213,079	41,215,742

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792596	complex substitution	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003155994.1, VCV001713199.1

No genotype data were submitted for this variant

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