A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459989



Internal ID15520054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187443913..187453460hg38UCSC Ensembl
Innerchr2:188308640..188318187hg19UCSC Ensembl
Innerchr2:188016885..188026432hg18UCSC Ensembl
Innerchr2:188134146..188143693hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg389548
hg199548
hg189548
hg179548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536627
Samples1782681274_A
Known GenesCALCRL
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)nsv459989
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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