A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596878



Internal ID16384287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1508722..1548649hg38UCSC Ensembl
Innerchr5:1508837..1548764hg19UCSC Ensembl
Innerchr5:1561837..1601764hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3839928
hg1939928
hg1839928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153524
Samples1780862275_A
Known GenesLPCAT1, MIR6075
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596878
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer