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dbVar

Database of genomic structural variation

nsv5673656

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:46,505

Description:NC_000005.9:g.(?_112090582)_(112137086_?)dup AND Familial adenomatous polyposis 1
Publication(s):ACMG Board of Directors et al. 2014, Aretz et al. 2011, Church et al. 2001, Green et al. 2013, 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: 215 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):112,754,885-112,801,389

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673656	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,754,885	112,801,389
nsv5673656	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	112,090,582	112,137,086

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172200	duplication	Multiple	Multiple	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV001378396.1, VCV001067200.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172200	Remapped	Perfect	NC_000005.10:g.(?_ 112754885)_(112801 389_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,754,885	112,801,389
nssv17172200	Submitted genomic		NC_000005.9:g.(?_1 12090582)_(1121370 86_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	112,090,582	112,137,086

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
nssv17172200	GRCh37: NC_000005.9:g.(?_112090582)_(112137086_?)dup	duplication	germline	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Likely pathogenic	ClinVar	RCV001378396.1, VCV001067200.1

No genotype data were submitted for this variant

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