A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584734



Internal ID16025457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542799..237544822hg38UCSC Ensembl
Innerchr2:238451442..238453465hg19UCSC Ensembl
Innerchr2:238116181..238118204hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382024
hg192024
hg182024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7344n54
Supporting Variantsnssv933664
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584734
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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