A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604414



Internal ID16045137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104813138..104813943hg38UCSC Ensembl
Innerchr6:105261013..105261818hg19UCSC Ensembl
Innerchr6:105367706..105368511hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38806
hg19806
hg18806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10890n54
Supporting Variantsnssv1071818
Samples
Known GenesHACE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604414
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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