A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465786



Internal ID15525851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118615432..118754926hg38UCSC Ensembl
Innerchr8:119627671..119767165hg19UCSC Ensembl
Innerchr8:119696852..119836346hg18UCSC Ensembl
Innerchr8:119696852..119836346hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38139495
hg19139495
hg18139495
hg17139495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541522
SamplesHGDP00262
Known GenesSAMD12, SAMD12-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)nsv465786
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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