A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584733



Internal ID16025456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542799..237544479hg38UCSC Ensembl
Innerchr2:238451442..238453122hg19UCSC Ensembl
Innerchr2:238116181..238117861hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7343n54
Supporting Variantsnssv933663, nssv933662
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584733
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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