A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458108



Internal ID15171487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64879216..64919312hg38UCSC Ensembl
Innerchr2:65106350..65146446hg19UCSC Ensembl
Innerchr2:64959854..64999950hg18UCSC Ensembl
Innerchr2:65018001..65058097hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3840097
hg1940097
hg1840097
hg1740097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535142
SamplesHGDP01287
Known GenesLOC400958
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)nsv458108
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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