A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596675



Internal ID16037398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:472193..474192hg38UCSC Ensembl
Innerchr5:472308..474307hg19UCSC Ensembl
Innerchr5:525308..527307hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382000
hg192000
hg182000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9488n54
Supporting Variantsnssv1021233
Samples
Known GenesPP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596675
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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