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dbVar

Database of genomic structural variation

nsv3887539

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:17,656

Description:NG_005905.2:g.(154652_160848)_(172307_?)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: 192 SVs from 31 studies. See in: genome view

Submitted genomic43,045,677-43,063,332

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3887539	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000017.11	Chr17	43,045,677	43,057,136	43,063,332
nsv3887539	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000017.10	Chr17	41,197,694	41,209,153	41,215,349

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15147755	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	RCV000414458.4, VCV000373868.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15147755	Submitted genomic	NC_000017.11:g.(?_ 43045677)_(4305713 6_43063332)del	GRCh38 (hg38)	NC_000017.11	Chr17	43,045,677	43,057,136	43,063,332
nssv15147755	Submitted genomic	NC_000017.10:g.(?_ 41197694)_(4120915 3_41215349)del	GRCh37 (hg19)	NC_000017.10	Chr17	41,197,694	41,209,153	41,215,349

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
nssv15147755	GRCh37: NC_000017.10:g.(?_41197694)_(41209153_41215349)del, GRCh38: NC_000017.11:g.(?_43045677)_(43057136_43063332)del	deletion	see ClinVar for details	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	RCV000414458.4, VCV000373868.3

No genotype data were submitted for this variant

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