A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612579



Internal ID16053302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141423157..141450169hg38UCSC Ensembl
Innerchr8:142433257..142460269hg19UCSC Ensembl
Innerchr8:142502439..142529451hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3827013
hg1927013
hg1827013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12368n54
Supporting Variantsnssv1156894
SamplesHGDP00784
Known GenesMROH5, PTP4A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612579
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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