A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584740



Internal ID16025463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542926..237545511hg38UCSC Ensembl
Innerchr2:238451569..238454154hg19UCSC Ensembl
Innerchr2:238116308..238118893hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382586
hg192586
hg182586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7344n54
Supporting Variantsnssv933680
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584740
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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