A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482997



Internal ID15235471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41201303..41350459hg38UCSC Ensembl
Innerchr5:41201405..41350561hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38149157
hg19149157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996007
Samples
Known GenesC6, PLCXD3
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482997
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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