A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541450



Internal ID15155297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61051140..61113389hg38UCSC Ensembl
Innerchr8:61963699..62025948hg19UCSC Ensembl
Innerchr8:62126253..62188502hg18UCSC Ensembl
Innerchr8:62126253..62188502hg17UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg3862250
hg1962250
hg1862250
hg1762250
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465697
Supporting Variants
Samples1780854061_A
Known Genes
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)nssv541450
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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