A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv604555



Internal ID16045278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118373886..118535659hg38UCSC Ensembl
Innerchr6:118695049..118856822hg19UCSC Ensembl
Innerchr6:118801742..118963515hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38161774
hg19161774
hg18161774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1072347
Samples
Known GenesBRD7P3, CEP85L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv604555
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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