A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599740



Internal ID16387149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134923501..134927449hg38UCSC Ensembl
Innerchr5:134259191..134263139hg19UCSC Ensembl
Innerchr5:134287090..134291038hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383949
hg193949
hg183949
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10075n54
Supporting Variantsnssv1032712
Samples
Known GenesPCBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599740
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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