A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458030



Internal ID15518095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57785698..57835085hg38UCSC Ensembl
Innerchr2:58012833..58062220hg19UCSC Ensembl
Innerchr2:57866337..57915724hg18UCSC Ensembl
Innerchr2:57924484..57973871hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3849388
hg1949388
hg1849388
hg1749388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535093
SamplesHGDP00092
Known Genes
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)nsv458030
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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