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dbVar

Database of genomic structural variation

nsv7094921

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:1,537,832

Description:NC_000017.10:g.(?_76851749)_(78367298_?)dup AND multiple conditions

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: 5447 SVs from 106 studies. See in: genome view

Remapped(Score: Good):78,855,667-80,393,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094921	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	78,855,667	80,393,498
nsv7094921	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	76,851,749	78,367,298

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787632	duplication	Multiple	Multiple	PITYRIASIS RUBRA PILARIS; PRP; PSORIASIS 2; PSORS2; Pityriasis rubra pilaris; Pityriasis rubra pilaris; Psoriasis susceptibility 2	Uncertain significance	ClinVar	RCV003122634.2, VCV002426801.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787632	Remapped	Good	NC_000017.11:g.(?_ 78855667)_(8039349 8_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	78,855,667	80,393,498
nssv18787632	Submitted genomic		NC_000017.10:g.(?_ 76851749)_(7836729 8_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	76,851,749	78,367,298

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
nssv18787632	GRCh37: NC_000017.10:g.(?_76851749)_(78367298_?)dup	duplication	germline	PITYRIASIS RUBRA PILARIS; PRP; PSORIASIS 2; PSORS2; Pityriasis rubra pilaris; Pityriasis rubra pilaris; Psoriasis susceptibility 2	Uncertain significance	ClinVar	RCV003122634.2, VCV002426801.3

No genotype data were submitted for this variant

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