A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460004



Internal ID15520069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194382880..194501360hg38UCSC Ensembl
Innerchr2:195247604..195366084hg19UCSC Ensembl
Innerchr2:194955849..195074329hg18UCSC Ensembl
Innerchr2:195073110..195191590hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38118481
hg19118481
hg18118481
hg17118481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536638
SamplesHGDP01197
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)nsv460004
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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