A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526719



Internal ID15454012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43904614..43921959hg38UCSC Ensembl
Innerchr12:44298417..44315762hg19UCSC Ensembl
Innerchr12:42584684..42602029hg18UCSC Ensembl
Innerchr12:42584684..42602029hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3817346
hg1917346
hg1817346
hg1717346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703059
Samples
Known GenesTMEM117
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526719
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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