A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933711



Internal ID15880981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238120056..238170901hg38UCSC Ensembl
Innerchr2:239028697..239079542hg19UCSC Ensembl
Innerchr2:238693436..238744281hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850846
hg1950846
hg1850846
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584758
Supporting Variants
Samples
Known GenesESPNL, ILKAP, KLHL30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933711
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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