A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456141



Internal ID15169520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33533389..33540888hg38UCSC Ensembl
Innerchr2:33758456..33765955hg19UCSC Ensembl
Innerchr2:33611960..33619459hg18UCSC Ensembl
Innerchr2:33670107..33677606hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg387500
hg197500
hg187500
hg177500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv444n27
Supporting Variantsnssv533531
SamplesNINDS_66
Known GenesRASGRP3
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)nsv456141
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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