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dbVar

Database of genomic structural variation

nsv5673129

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:14,926

Description:NC_000017.10:g.(?_41234401)_(41249326_?)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: 185 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):43,082,384-43,097,309

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673129	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	43,082,384	43,097,309
nsv5673129	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	41,234,401	41,249,326

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172123	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	RCV001377606.2, VCV001066580.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172123	Remapped	Perfect	NC_000017.11:g.(?_ 43082384)_(4309730 9_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	43,082,384	43,097,309
nssv17172123	Submitted genomic		NC_000017.10:g.(?_ 41234401)_(4124932 6_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	41,234,401	41,249,326

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
nssv17172123	GRCh37: NC_000017.10:g.(?_41234401)_(41249326_?)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	RCV001377606.2, VCV001066580.2

No genotype data were submitted for this variant

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