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dbVar

Database of genomic structural variation

nsv7095147

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:604,587

Description:NC_000017.10:g.(?_33475283)_(34079869_?)dup AND Peroxisome biogenesis disorder 3A (Zellweger)

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: 1690 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):35,148,264-35,752,850

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	35,148,264	35,752,850
nsv7095147	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	33,475,283	34,079,869

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788930	duplication	Multiple	Multiple	PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A; Peroxisome biogenesis disorder 3A; See individual phenotypes in OMIM allelic variants; Zellweger syndrome	Uncertain significance	ClinVar	RCV003110947.2, VCV002422813.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788930	Remapped	Perfect	NC_000017.11:g.(?_ 35148264)_(3575285 0_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	35,148,264	35,752,850
nssv18788930	Submitted genomic		NC_000017.10:g.(?_ 33475283)_(3407986 9_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	33,475,283	34,079,869

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
nssv18788930	GRCh37: NC_000017.10:g.(?_33475283)_(34079869_?)dup	duplication	germline	PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A; Peroxisome biogenesis disorder 3A; See individual phenotypes in OMIM allelic variants; Zellweger syndrome	Uncertain significance	ClinVar	RCV003110947.2, VCV002422813.2

No genotype data were submitted for this variant

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