A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583748



Internal ID16371157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178194091..178195085hg38UCSC Ensembl
Innerchr2:179058818..179059812hg19UCSC Ensembl
Innerchr2:178767064..178768058hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38995
hg19995
hg18995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7187n54
Supporting Variantsnssv927196
Samples
Known GenesOSBPL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583748
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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