A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465818



Internal ID15525883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133093077..133122429hg38UCSC Ensembl
Innerchr8:134105321..134134673hg19UCSC Ensembl
Innerchr8:134174503..134203855hg18UCSC Ensembl
Innerchr8:134174503..134203855hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3829353
hg1929353
hg1829353
hg1729353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541548
Samples1780862484_A
Known GenesSLA, TG
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)nsv465818
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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