A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459956



Internal ID15520021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182305789..182339642hg38UCSC Ensembl
Innerchr2:183170516..183204369hg19UCSC Ensembl
Innerchr2:182878761..182912614hg18UCSC Ensembl
Innerchr2:182996022..183029875hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3833854
hg1933854
hg1833854
hg1733854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv479n27
Supporting Variantsnssv536598
SamplesHGDP01012
Known GenesPDE1A
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)nsv459956
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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