A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596831



Internal ID16384240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1176486..1207412hg38UCSC Ensembl
Innerchr5:1176601..1207527hg19UCSC Ensembl
Innerchr5:1229601..1260527hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3830927
hg1930927
hg1830927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153288, nssv1153289
SamplesHGDP01371, HGDP01370
Known GenesSLC6A19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596831
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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