A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152184



Internal ID15526521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41231539..41454496hg38UCSC Ensembl
Innerchr22:41627543..41850500hg19UCSC Ensembl
Innerchr22:39957489..40180446hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38222958
hg19222958
hg18222958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589050
Supporting Variants
SamplesHGDP00143
Known GenesCHADL, MIR6889, RANGAP1, TEF, TOB2, ZC3H7B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152184
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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