A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605378



Internal ID16392787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168195571hg38UCSC Ensembl
Innerchr6:168335278..168596251hg19UCSC Ensembl
Innerchr6:168078127..168339100hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38260974
hg19260974
hg18260974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1154901
SamplesHGDP00644
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)nsv605378
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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