A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459948



Internal ID8486995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:174710921..174762320hg38UCSC Ensembl
Innerchr2:175575649..175627048hg19UCSC Ensembl
Innerchr2:175283895..175335294hg18UCSC Ensembl
Innerchr2:175401156..175452555hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3851400
hg1951400
hg1851400
hg1751400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536591
SamplesHGDP00905
Known GenesCHRNA1
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)nsv459948
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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