A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599905



Internal ID16040628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141097310..141101268hg38UCSC Ensembl
Innerchr5:140476894..140480852hg19UCSC Ensembl
Innerchr5:140457078..140461036hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383959
hg193959
hg183959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042401
Samples
Known GenesPCDHB2, PCDHB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599905
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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