A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605447



Internal ID16392856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167987533..168195580hg38UCSC Ensembl
Innerchr6:168388213..168596260hg19UCSC Ensembl
Innerchr6:168131062..168339109hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38208048
hg19208048
hg18208048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11064n54
Supporting Variantsnssv1077286
Samples
Known GenesFRMD1, KIF25, KIF25-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605447
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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