A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459885



Internal ID15173264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158394135..158469413hg38UCSC Ensembl
Innerchr2:159250647..159325925hg19UCSC Ensembl
Innerchr2:158958893..159034171hg18UCSC Ensembl
Innerchr2:159076155..159151433hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3875279
hg1975279
hg1875279
hg1775279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536546
Samples1782681093_A
Known GenesCCDC148, PKP4
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)nsv459885
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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