A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599832



Internal ID16040555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140848291hg38UCSC Ensembl
Innerchr5:140214995..140227876hg19UCSC Ensembl
Innerchr5:140195179..140208060hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812882
hg1912882
hg1812882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10092n54
Supporting Variantsnssv1042107
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599832
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