A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584731



Internal ID16025454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237534899..237547678hg38UCSC Ensembl
Innerchr2:238443542..238456321hg19UCSC Ensembl
Innerchr2:238108281..238121060hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812780
hg1912780
hg1812780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933660
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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