A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152351



Internal ID15527807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238115539..238174436hg38UCSC Ensembl
Innerchr2:239024180..239083077hg19UCSC Ensembl
Innerchr2:238688919..238747816hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3858898
hg1958898
hg1858898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584755
Supporting Variants
SamplesHGDP00546
Known GenesESPNL, ILKAP, KLHL30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152351
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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