A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599743



Internal ID16387152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134924576..134926672hg38UCSC Ensembl
Innerchr5:134260266..134262362hg19UCSC Ensembl
Innerchr5:134288165..134290261hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382097
hg192097
hg182097
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032721, nssv1032720
Samples
Known GenesPCBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599743
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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