A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605194



Internal ID16045917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:163403832..163415261hg38UCSC Ensembl
Innerchr6:163824864..163836293hg19UCSC Ensembl
Innerchr6:163744854..163756283hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3811430
hg1911430
hg1811430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11024n54
Supporting Variantsnssv1075595, nssv1075594
Samples
Known GenesCAHM, QKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605194
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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