A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570243



Internal ID16357652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82161942..82280914hg38UCSC Ensembl
Innerchr15:82454283..82573255hg19UCSC Ensembl
Innerchr15:80241338..80360310hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38118973
hg19118973
hg18118973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4682n54
Supporting Variantsnssv1149246
Samples1780854325_A
Known GenesEFTUD1, FAM154B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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