A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460148



Internal ID15520213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239092694..239123654hg38UCSC Ensembl
Innerchr2:240014390..240045350hg19UCSC Ensembl
Innerchr2:239679327..239710287hg18UCSC Ensembl
Innerchr2:239750644..239781604hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3830961
hg1930961
hg1830961
hg1730961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536755
SamplesNINDS_230
Known GenesHDAC4
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)nsv460148
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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