A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584730



Internal ID16025453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237517191..237518499hg38UCSC Ensembl
Innerchr2:238425834..238427142hg19UCSC Ensembl
Innerchr2:238090573..238091881hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381309
hg191309
hg181309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933659
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584730
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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