A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584729



Internal ID16025452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237516361..237518310hg38UCSC Ensembl
Innerchr2:238425004..238426953hg19UCSC Ensembl
Innerchr2:238089743..238091692hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381950
hg191950
hg181950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933658, nssv933657
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584729
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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