A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593277



Internal ID16034000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1165892..1243052hg38UCSC Ensembl
Innerchr4:1159680..1236840hg19UCSC Ensembl
Innerchr4:1149680..1226840hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3877161
hg1977161
hg1877161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8890n54
Supporting Variantsnssv1153430
SamplesHGDP00788
Known GenesCTBP1, CTBP1-AS, LOC100130872, SPON2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593277
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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