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dbVar

Database of genomic structural variation

nsv4682652

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:954

Description:NC_000016.10:g.(?_89919259)_(89920212_?)del AND Melanoma, cutaneous malignant, susceptibility to, 5

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: 120 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):89,919,259-89,920,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682652	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	89,919,259	89,920,212
nsv4682652	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	89,985,667	89,986,620

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214417	deletion	Multiple	Multiple	Cutaneous malignant melanoma 5; Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5	Uncertain significance	ClinVar	RCV001033204.2, VCV000832731.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214417	Remapped	Perfect	NC_000016.10:g.(?_ 89919259)_(8992021 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	89,919,259	89,920,212
nssv16214417	Submitted genomic		NC_000016.9:g.(?_8 9985667)_(89986620 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	89,985,667	89,986,620

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
nssv16214417	GRCh37: NC_000016.9:g.(?_89985667)_(89986620_?)del	deletion	germline	Cutaneous malignant melanoma 5; Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5	Uncertain significance	ClinVar	RCV001033204.2, VCV000832731.2

No genotype data were submitted for this variant

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