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dbVar

Database of genomic structural variation

nsv7094400

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:14,033

Description:NC_000013.10:g.(?_32889617)_(32903649_?)del AND Hereditary breast ovarian cancer syndrome
Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, American Society of Clinical Oncology et al. 2003, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Green et al. 2013, Kalia et al. 2016, Lu et al. 2014, 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, Stratton et al. 2008, 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: 96 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):32,315,480-32,329,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094400	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	32,315,480	32,329,512
nsv7094400	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	32,889,617	32,903,649

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791102	deletion	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome	Pathogenic	ClinVar	RCV003119214.2, VCV002422268.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791102	Remapped	Perfect	NC_000013.11:g.(?_ 32315480)_(3232951 2_?)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	32,315,480	32,329,512
nssv18791102	Submitted genomic		NC_000013.10:g.(?_ 32889617)_(3290364 9_?)del	GRCh37 (hg19)		NC_000013.10	Chr13	32,889,617	32,903,649

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
nssv18791102	GRCh37: NC_000013.10:g.(?_32889617)_(32903649_?)del	deletion	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome	Pathogenic	ClinVar	RCV003119214.2, VCV002422268.3

No genotype data were submitted for this variant

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