A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462468



Internal ID15522533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140847633..140852761hg38UCSC Ensembl
Innerchr5:140227218..140232346hg19UCSC Ensembl
Innerchr5:140207402..140212530hg18UCSC Ensembl
Innerchr5:140207402..140212530hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385129
hg195129
hg185129
hg175129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724n27
Supporting Variantsnssv538624
SamplesHGDP01323
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462468
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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