A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597156



Internal ID16384565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12343873..12464651hg38UCSC Ensembl
Innerchr5:12343985..12464763hg19UCSC Ensembl
Innerchr5:12396985..12517763hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38120779
hg19120779
hg18120779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025299
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597156
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