A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596858



Internal ID16037581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1423790..1468172hg38UCSC Ensembl
Innerchr5:1423905..1468287hg19UCSC Ensembl
Innerchr5:1476905..1521287hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3844383
hg1944383
hg1844383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9536n54
Supporting Variantsnssv1153523
SamplesNINDS_113
Known GenesLPCAT1, SLC6A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596858
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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