A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612571



Internal ID16399980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:140886155..141031695hg38UCSC Ensembl
Innerchr8:141896254..142041794hg19UCSC Ensembl
Innerchr8:141965436..142110976hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38145541
hg19145541
hg18145541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124291
Samples
Known GenesPTK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612571
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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