A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599848



Internal ID16387257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140846323..140860465hg38UCSC Ensembl
Innerchr5:140225908..140240050hg19UCSC Ensembl
Innerchr5:140206092..140220234hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3814143
hg1914143
hg1814143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10094n54
Supporting Variantsnssv1042169
Samples
Known GenesPCDHA1, PCDHA10, 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)nsv599848
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