A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8137n54



Internal ID22776032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50024802..50157413hg38UCSC Ensembl
chr22:50463231..50595842hg19UCSC Ensembl
chr22:48805358..48937969hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38132612
hg19132612
hg18132612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589206, nsv589207
SamplesHGDP00590, HGDP00581, HGDP00605, HGDP00573
Known GenesMLC1, MOV10L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8137n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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