A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465787



Internal ID15525852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118628930..118714003hg38UCSC Ensembl
Innerchr8:119641169..119726242hg19UCSC Ensembl
Innerchr8:119710350..119795423hg18UCSC Ensembl
Innerchr8:119710350..119795423hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3885074
hg1985074
hg1885074
hg1785074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541523
SamplesHGDP00054
Known GenesSAMD12-AS1
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)nsv465787
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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