A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605383



Internal ID16392792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167935400..168180014hg38UCSC Ensembl
Innerchr6:168336080..168580694hg19UCSC Ensembl
Innerchr6:168078929..168323543hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38244615
hg19244615
hg18244615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11062n54
Supporting Variantsnssv1154905
Samples1780854417_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)nsv605383
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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