A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460421



Internal ID15173800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:10377489..10393257hg38UCSC Ensembl
Innerchr3:10419173..10434941hg19UCSC Ensembl
Innerchr3:10394173..10409941hg18UCSC Ensembl
Innerchr3:10394173..10409941hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3815769
hg1915769
hg1815769
hg1715769
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537001
SamplesHGDP01351
Known GenesATP2B2
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)nsv460421
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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