A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605438



Internal ID16392847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167949001..168196562hg38UCSC Ensembl
Innerchr6:168349681..168597242hg19UCSC Ensembl
Innerchr6:168092530..168340091hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38247562
hg19247562
hg18247562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1155803, nssv1077276
Samples1780862246_A
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)nsv605438
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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