A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541346



Internal ID15157600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15545427..15569939hg38UCSC Ensembl
Innerchr8:15402936..15427448hg19UCSC Ensembl
Innerchr8:15447307..15471819hg18UCSC Ensembl
Innerchr8:15447307..15471819hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3824513
hg1924513
hg1824513
hg1724513
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465557
Supporting Variants
Samples1782681091_A
Known GenesTUSC3
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)nssv541346
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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