A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599831



Internal ID16040554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140847633hg38UCSC Ensembl
Innerchr5:140214995..140227218hg19UCSC Ensembl
Innerchr5:140195179..140207402hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812224
hg1912224
hg1812224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10092n54
Supporting Variantsnssv1042105, nssv1042106
Samples
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599831
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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