A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584737



Internal ID16025460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542799..237545188hg38UCSC Ensembl
Innerchr2:238451442..238453831hg19UCSC Ensembl
Innerchr2:238116181..238118570hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382390
hg192390
hg182390
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7344n54
Supporting Variantsnssv933677, nssv933674, nssv933675, nssv933676, nssv933671, nssv933668, nssv933673, nssv933670, nssv933669, nssv933672
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584737
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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