A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600979



Internal ID16041702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10449025..10839526hg38UCSC Ensembl
Innerchr6:10449258..10839759hg19UCSC Ensembl
Innerchr6:10557244..10947745hg18UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38390502
hg19390502
hg18390502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153627
SamplesHGDP00542
Known GenesC6orf52, GCNT2, MAK, PAK1IP1, TMEM14B, TMEM14C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600979
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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