A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597926



Internal ID16385335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43556410..43557127hg38UCSC Ensembl
Innerchr5:43556512..43557229hg19UCSC Ensembl
Innerchr5:43592269..43592986hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38718
hg19718
hg18718
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9737n54
Supporting Variantsnssv1029365
Samples
Known GenesPAIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597926
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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