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dbVar

Database of genomic structural variation

nsv6137662

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:25,055

Description:NC_000005.9:g.(112103088_112111325)_(112116601
_112128142)del AND Familial multiple polyposis syndrome
Publication(s):Hampel et al. 2014, No authors et al. 2020, Vasen et al. 2008

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: 166 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):112,767,391-112,792,445

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6137662	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,767,391	112,775,628	112,780,904	112,792,445
nsv6137662	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	112,103,088	112,111,325	112,116,601	112,128,142

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683431	deletion	Multiple	Multiple	Familial adenomatous polyposis; Familial multiple polyposis syndrome	Likely pathogenic	ClinVar	RCV001553559.1, VCV001192195.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17683431	Remapped	Perfect	NC_000005.10:g.(11 2767391_112775628) _(112780904_112792 445)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,767,391	112,775,628	112,780,904	112,792,445
nssv17683431	Submitted genomic		NC_000005.9:g.(112 103088_112111325)_ (112116601_1121281 42)del	GRCh37 (hg19)		NC_000005.9	Chr5	112,103,088	112,111,325	112,116,601	112,128,142

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
nssv17683431	GRCh37: NC_000005.9:g.(112103088_112111325)_(112116601_112128142)del	deletion	germline	Familial adenomatous polyposis; Familial multiple polyposis syndrome	Likely pathogenic	ClinVar	RCV001553559.1, VCV001192195.1

No genotype data were submitted for this variant

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