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dbVar

Database of genomic structural variation

nsv7097498

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:126

Description:NC_000005.9:g.(?_112151175)_(112151300_?)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: 110 SVs from 17 studies. See in: genome view

Remapped(Score: Perfect):112,815,478-112,815,603

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097498	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,815,478	112,815,603
nsv7097498	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	112,151,175	112,151,300

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791017	duplication	Multiple	Multiple	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003119123.2, VCV002422177.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791017	Remapped	Perfect	NC_000005.10:g.(?_ 112815478)_(112815 603_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,815,478	112,815,603
nssv18791017	Submitted genomic		NC_000005.9:g.(?_1 12151175)_(1121513 00_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	112,151,175	112,151,300

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
nssv18791017	GRCh37: NC_000005.9:g.(?_112151175)_(112151300_?)dup	duplication	germline	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003119123.2, VCV002422177.2

No genotype data were submitted for this variant

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