A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605330



Internal ID16392739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166783961..166784432hg38UCSC Ensembl
Innerchr6:167197449..167197920hg19UCSC Ensembl
Innerchr6:167117439..167117910hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38472
hg19472
hg18472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11054n54
Supporting Variantsnssv1076658, nssv1076657
Samples
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605330
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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