A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541503



Internal ID15506494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:106826664..106860349hg38UCSC Ensembl
Innerchr8:107838892..107872577hg19UCSC Ensembl
Innerchr8:107908068..107941753hg18UCSC Ensembl
Innerchr8:107908068..107941753hg17UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3833686
hg1933686
hg1833686
hg1733686
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465756
Supporting Variants
SamplesHGDP00515
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)nssv541503
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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