Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4682355

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:61,678

Description:NC_000006.12:g.(?_42923027)_(42984704_?)dup AND Peroxisome biogenesis disorder
Publication(s):Steinberg et al. 2003

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: 332 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):42,923,027-42,984,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682355	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	42,923,027	42,984,704
nsv4682355	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	42,890,765	42,952,442

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212838	duplication	Multiple	Multiple	PEROXISOME BIOGENESIS DISORDER 1B; PBD1B; Peroxisome biogenesis disorder; Peroxisome biogenesis disorders, Zellweger syndrome spectrum; Zellweger Spectrum Disorder	Uncertain significance	ClinVar	RCV001033858.1, VCV000833415.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212838	Remapped	Perfect	NC_000006.12:g.(?_ 42923027)_(4298470 4_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	42,923,027	42,984,704
nssv16212838	Submitted genomic		NC_000006.11:g.(?_ 42890765)_(4295244 2_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	42,890,765	42,952,442

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
nssv16212838	GRCh37: NC_000006.11:g.(?_42890765)_(42952442_?)dup	duplication	germline	PEROXISOME BIOGENESIS DISORDER 1B; PBD1B; Peroxisome biogenesis disorder; Peroxisome biogenesis disorders, Zellweger syndrome spectrum; Zellweger Spectrum Disorder	Uncertain significance	ClinVar	RCV001033858.1, VCV000833415.1

No genotype data were submitted for this variant

You are here: NCBI