A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541156



Internal ID15161294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3829877..6093123hg38UCSC Ensembl
Innerchr8:3687399..5950645hg19UCSC Ensembl
Innerchr8:3674807..5938053hg18UCSC Ensembl
Innerchr8:3674807..5938053hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382263247
hg192263247
hg182263247
hg172263247
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465353
Supporting Variants
SamplesHGDP00747
Known GenesCSMD1
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)nssv541156
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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