A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv482976



Internal ID15582344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29042622..29229181hg38UCSC Ensembl
Innerchr14:29511828..29698387hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38186560
hg19186560
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996049, nssv2995939, nssv2996025, nssv2996409, nssv2996553, nssv2996304, nssv2996163, nssv2996261, nssv2995994, nssv2996015, nssv2995907, nssv2996067, nssv2996499, nssv2996038, nssv2996042, nssv2996337, nssv2996376, nssv2996170, nssv2996278, nssv2996079, nssv2996434, nssv2995936, nssv2996312
Samples
Known Genes
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv482976
Frequency
Sample Size39
Observed Gain17
Observed Loss6
Observed Complex0
Frequencyn/a


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