A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524703



Internal ID15451996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115901484..115909655hg38UCSC Ensembl
Innerchr12:116339289..116347460hg19UCSC Ensembl
Innerchr12:114823672..114831843hg18UCSC Ensembl
Innerchr12:114802009..114810180hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg388172
hg198172
hg188172
hg178172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700686
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524703
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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