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dbVar

Database of genomic structural variation

nsv7093069

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:89

Description:NM_000038.6(APC):c.1743+45_1743+133del 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: 113 SVs from 19 studies. See in: genome view

Submitted genomic112,828,991-112,829,079

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv7093069	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000005.10	Chr5	112,828,991	112,829,079
nsv7093069	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000005.9	Chr5	112,164,688	112,164,776

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786527	deletion	Multiple	Multiple	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV002975982.1, VCV002073995.1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv18786527	Submitted genomic	NC_000005.10:g.112 828991_112829079de l	GRCh38 (hg38)	NC_000005.10	Chr5	112,828,991	112,829,079
nssv18786527	Submitted genomic	NC_000005.9:g.1121 64688_112164776del	GRCh37 (hg19)	NC_000005.9	Chr5	112,164,688	112,164,776

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
nssv18786527	GRCh37: NC_000005.9:g.112164688_112164776del, GRCh38: NC_000005.10:g.112828991_112829079del	deletion	germline	APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants	Likely benign	ClinVar	RCV002975982.1, VCV002073995.1

No genotype data were submitted for this variant

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