A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612544



Internal ID16053267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139696474..139746713hg38UCSC Ensembl
Innerchr8:140708717..140758956hg19UCSC Ensembl
Innerchr8:140777899..140828138hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3850240
hg1950240
hg1850240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124238
Samples
Known GenesKCNK9, TRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612544
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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