A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462470



Internal ID15175849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141482234..141513076hg38UCSC Ensembl
Innerchr5:140861801..140892643hg19UCSC Ensembl
Innerchr5:140841985..140872827hg18UCSC Ensembl
Innerchr5:140841985..140872827hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3830843
hg1930843
hg1830843
hg1730843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538625
Samples1780862419_A
Known GenesPCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5
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)nsv462470
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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