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dbVar

Database of genomic structural variation

nsv5564337

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:68,452

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: 251 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):214,728,676-214,797,127

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564337	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	214,728,676	214,797,127
nsv5564337	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	215,593,400	215,661,851

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059298	duplication	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Uncertain significance	ClinVar	RCV001370433.3, VCV001060934.3
nssv18789240	deletion	Multiple	Multiple	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Pathogenic	ClinVar	RCV003111275.2, VCV002423134.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059298	Remapped	Perfect	NC_000002.12:g.(?_ 214728676)_(214797 127_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	214,728,676	214,797,127
nssv18789240	Remapped	Perfect	NC_000002.12:g.(?_ 214728676)_(214797 127_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	214,728,676	214,797,127
nssv17059298	Submitted genomic		NC_000002.11:g.(?_ 215593400)_(215661 851_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	215,593,400	215,661,851
nssv18789240	Submitted genomic		NC_000002.11:g.(?_ 215593400)_(215661 851_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	215,593,400	215,661,851

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
nssv17059298	GRCh37: NC_000002.11:g.(?_215593400)_(215661851_?)dup	duplication	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Uncertain significance	ClinVar	RCV001370433.3, VCV001060934.3
nssv18789240	GRCh37: NC_000002.11:g.(?_215593400)_(215661851_?)del	deletion	germline	BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast	Pathogenic	ClinVar	RCV003111275.2, VCV002423134.2

No genotype data were submitted for this variant

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