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

dbVar

Database of genomic structural variation

nsv3884357

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:67,516,258

Description:
See descriptions for individual calls in download files
Publication(s):ACMG Board of Directors et al. 2014, Aretz et al. 2011, Church et al. 2001, Green et al. 2013, Hampel et al. 2014, Hegde et al. 2013, Jasperson et al. 1998, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004

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: 163129 SVs from 142 studies. See in: genome view

Remapped(Score: Good):87,104,183-154,620,440

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3884357	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	87,104,183	154,620,440
nsv3884357	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	86,400,000	154,000,000

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15143209	deletion	Multiple	Multiple	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Pathogenic	ClinVar	RCV000554476.8, VCV000457359.38
nssv17976344	deletion	Multiple	Multiple	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002231249.9, VCV000457359.38

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15143209	Remapped	Good	NC_000005.10:g.(?_ 87104183)_(1546204 40_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	87,104,183	154,620,440
nssv17976344	Remapped	Good	NC_000005.10:g.(?_ 87104183)_(1546204 40_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	87,104,183	154,620,440
nssv15143209	Submitted genomic		NC_000005.9:g.(?_8 6400000)_(15400000 0_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	86,400,000	154,000,000
nssv17976344	Submitted genomic		NC_000005.9:g.(?_8 6400000)_(15400000 0_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	86,400,000	154,000,000

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
nssv15143209	GRCh37: NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	germline	Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary	Pathogenic	ClinVar	RCV000554476.8, VCV000457359.38
nssv17976344	GRCh37: NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	germline	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV002231249.9, VCV000457359.38

No genotype data were submitted for this variant

You are here: NCBI