A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933678



Internal ID15880948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542799..237545511hg38UCSC Ensembl
Innerchr2:238451442..238454154hg19UCSC Ensembl
Innerchr2:238116181..238118893hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382713
hg192713
hg182713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584738
Supporting Variants
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933678
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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