A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460147



Internal ID15520212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238115539..238174436hg38UCSC Ensembl
Innerchr2:239024180..239083077hg19UCSC Ensembl
Innerchr2:238688919..238747816hg18UCSC Ensembl
Innerchr2:238806180..238865077hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3858898
hg1958898
hg1858898
hg1758898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536754
SamplesHGDP00546
Known GenesESPNL, ILKAP, KLHL30
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)nsv460147
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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