A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605439



Internal ID16392848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167949001..168198653hg38UCSC Ensembl
Innerchr6:168349681..168599333hg19UCSC Ensembl
Innerchr6:168092530..168342182hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38249653
hg19249653
hg18249653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077278, nssv1077277
Samples
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605439
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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