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dbVar

Database of genomic structural variation

nsv5672923

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:33,304

Description:
See descriptions for individual calls in download files
Publication(s):Berliner et al. 2007, Burstein et al. 2021, 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, No authors et al. 2021, Petrucelli et al. 1998, 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: 118 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):23,607,854-23,641,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672923	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	23,607,854	23,641,157
nsv5672923	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	23,619,175	23,652,478

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171818	deletion	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Pathogenic	ClinVar	RCV001389624.4, VCV001075920.4
nssv18787691	duplication	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Uncertain significance	ClinVar	RCV003122694.2, VCV002426861.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171818	Remapped	Perfect	NC_000016.10:g.(?_ 23607854)_(2364115 7_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	23,607,854	23,641,157
nssv18787691	Remapped	Perfect	NC_000016.10:g.(?_ 23607854)_(2364115 7_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	23,607,854	23,641,157
nssv17171818	Submitted genomic		NC_000016.9:g.(?_2 3619175)_(23652478 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	23,619,175	23,652,478
nssv18787691	Submitted genomic		NC_000016.9:g.(?_2 3619175)_(23652478 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	23,619,175	23,652,478

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
nssv17171818	GRCh37: NC_000016.9:g.(?_23619175)_(23652478_?)del	deletion	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Pathogenic	ClinVar	RCV001389624.4, VCV001075920.4
nssv18787691	GRCh37: NC_000016.9:g.(?_23619175)_(23652478_?)dup	duplication	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Uncertain significance	ClinVar	RCV003122694.2, VCV002426861.2

No genotype data were submitted for this variant

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