A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599938



Internal ID16040661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146789948..147426802hg38UCSC Ensembl
Innerchr5:146169511..146806365hg19UCSC Ensembl
Innerchr5:146149704..146786558hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38636855
hg19636855
hg18636855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042578, nssv1042577, nssv1042579, nssv1042580
Samples
Known GenesDPYSL3, PPP2R2B, PPP2R2B-IT1, STK32A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599938
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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