A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465985



Internal ID15526050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142281676..142322332hg38UCSC Ensembl
Innerchr8:143363037..143403693hg19UCSC Ensembl
Innerchr8:143360944..143401600hg18UCSC Ensembl
Innerchr8:143360944..143401600hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3840657
hg1940657
hg1840657
hg1740657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541646
SamplesHGDP00438
Known GenesTSNARE1
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)nsv465985
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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