A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1032710



Internal ID15885896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134923501..134927206hg38UCSC Ensembl
Innerchr5:134259191..134262896hg19UCSC Ensembl
Innerchr5:134287090..134290795hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383706
hg193706
hg183706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599738
Supporting Variants
Samples
Known GenesPCBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1032710
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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