A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483118



Internal ID15235592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48597171..48770835hg38UCSC Ensembl
Innerchr13:49171307..49344971hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38173665
hg19173665
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996196, nssv2996407
Samples
Known GenesCYSLTR2
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483118
Frequency
Sample Size39
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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