A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460424



Internal ID15173803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:10477996..10486091hg38UCSC Ensembl
Innerchr3:10519680..10527775hg19UCSC Ensembl
Innerchr3:10494680..10502775hg18UCSC Ensembl
Innerchr3:10494680..10502775hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg388096
hg198096
hg188096
hg178096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537003
Samples1780862075_A
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)nsv460424
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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