A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603405



Internal ID16390814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:64846462..64971690hg38UCSC Ensembl
Innerchr6:65556355..65681583hg19UCSC Ensembl
Innerchr6:65613076..65738304hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38125229
hg19125229
hg18125229
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153706
SamplesHGDP01294
Known GenesEYS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603405
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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