A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599892



Internal ID16387301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140852761..140857963hg38UCSC Ensembl
Innerchr5:140232346..140237548hg19UCSC Ensembl
Innerchr5:140212530..140217732hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385203
hg195203
hg185203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10102n54
Supporting Variantsnssv1042380, nssv1042379, nssv1042381
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)nsv599892
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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