A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933718



Internal ID15880988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238238849..238241307hg38UCSC Ensembl
Innerchr2:239147490..239149948hg19UCSC Ensembl
Innerchr2:238812229..238814687hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382459
hg192459
hg182459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584765
Supporting Variants
Samples
Known GenesHES6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933718
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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