A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541526



Internal ID15510164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121392857..121440080hg38UCSC Ensembl
Innerchr8:122405097..122452320hg19UCSC Ensembl
Innerchr8:122474278..122521501hg18UCSC Ensembl
Innerchr8:122474278..122521501hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3847224
hg1947224
hg1847224
hg1747224
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465793
Supporting Variants
SamplesHGDP01199
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)nssv541526
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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