A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524175



Internal ID15104782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18208709..18249551hg38UCSC Ensembl
Innerchr12:18361643..18402485hg19UCSC Ensembl
Innerchr12:18252910..18293752hg18UCSC Ensembl
Innerchr12:18252910..18293752hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3840843
hg1940843
hg1840843
hg1740843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700056
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524175
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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