A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604431



Internal ID16045154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813512..104814546hg38UCSC Ensembl
Innerchr6:105261387..105262421hg19UCSC Ensembl
Innerchr6:105368080..105369114hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10894n54
Supporting Variantsnssv1071873, nssv1071870, nssv1071869, nssv1071871, nssv1071872
Samples
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604431
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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