A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605382



Internal ID16392791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168178987hg38UCSC Ensembl
Innerchr6:168336080..168579667hg19UCSC Ensembl
Innerchr6:168078929..168322516hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38243588
hg19243588
hg18243588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1077144, nssv1077145, nssv1077142, nssv1077143
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)nsv605382
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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