A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589098



Internal ID16376507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43463583..43718462hg38UCSC Ensembl
Innerchr22:43859477..44114342hg19UCSC Ensembl
Innerchr22:42189421..42445675hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38254880
hg19254866
hg18256255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152188
SamplesHGDP00913
Known GenesEFCAB6, EFCAB6-AS1, MPPED1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589098
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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