A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605345



Internal ID16046068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167311162..167370176hg38UCSC Ensembl
Innerchr6:167724650..167783664hg19UCSC Ensembl
Innerchr6:167644640..167703654hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3859015
hg1959015
hg1859015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1077047
Samples
Known GenesTTLL2, UNC93A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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