Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3889751

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,368

Description:NG_005905.2:g.(?_92501)_(92714_93868)del 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: 148 SVs from 29 studies. See in: genome view

Submitted genomic43,124,116-43,125,483

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nsv3889751	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	43,124,116	43,125,270	43,125,483
nsv3889751	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000017.10	Chr17	41,276,133	41,277,287	41,277,500

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15147587	deletion	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	RCV000414085.3, VCV000373865.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nssv15147587	Submitted genomic	NC_000017.11:g.(43 124116_43125270)_( 43125483_?)del	GRCh38 (hg38)	NC_000017.11	Chr17	43,124,116	43,125,270	43,125,483
nssv15147587	Submitted genomic	NC_000017.10:g.(41 276133_41277287)_( 41277500_?)del	GRCh37 (hg19)	NC_000017.10	Chr17	41,276,133	41,277,287	41,277,500

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
nssv15147587	GRCh37: NC_000017.10:g.(41276133_41277287)_(41277500_?)del, GRCh38: NC_000017.11:g.(43124116_43125270)_(43125483_?)del	deletion	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	RCV000414085.3, VCV000373865.3

No genotype data were submitted for this variant

You are here: NCBI