A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461156



Internal ID15521221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1261142..1318606hg38UCSC Ensembl
Innerchr4:1254930..1312394hg19UCSC Ensembl
Innerchr4:1244930..1302394hg18UCSC Ensembl
Innerchr4:1244760..1302224hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3857465
hg1957465
hg1857465
hg1757465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537590
SamplesHGDP01303
Known GenesMAEA
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)nsv461156
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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