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dbVar

Database of genomic structural variation

nsv6315171

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:19,043

Description:GRCh37/hg19 5q22.2(chr5:112155123-112174165)x1 AND Familial adenomatous polyposis due to 5q22.2 microdeletion

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

Remapped(Score: Perfect):112,819,426-112,838,468

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315171	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,819,426	112,838,468
nsv6315171	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	112,155,123	112,174,165

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976657	copy number loss	Multiple	Multiple	Familial adenomatous polyposis due to 5q22.2 microdeletion	Pathogenic	ClinVar	RCV002279742.1, VCV001341972.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976657	Remapped	Perfect	NC_000005.10:g.(?_ 112819426)_(112838 468_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,819,426	112,838,468
nssv17976657	Submitted genomic		NC_000005.9:g.(?_1 12155123)_(1121741 65_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	112,155,123	112,174,165

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	Copy number
nssv17976657	GRCh37: NC_000005.9:g.(?_112155123)_(112174165_?)del	copy number loss	paternal	Familial adenomatous polyposis due to 5q22.2 microdeletion	Pathogenic	ClinVar	RCV002279742.1, VCV001341972.1	1

No genotype data were submitted for this variant

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