A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461678



Internal ID15175057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150944370..151059484hg38UCSC Ensembl
Innerchr4:151865522..151980636hg19UCSC Ensembl
Innerchr4:152084972..152200086hg18UCSC Ensembl
Innerchr4:152223127..152338241hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38115115
hg19115115
hg18115115
hg17115115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538039
SamplesHGDP00241
Known GenesLRBA
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)nsv461678
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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