A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541458



Internal ID15509230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:69512036..69552678hg38UCSC Ensembl
Innerchr8:70424271..70464913hg19UCSC Ensembl
Innerchr8:70586825..70627467hg18UCSC Ensembl
Innerchr8:70586825..70627467hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3840643
hg1940643
hg1840643
hg1740643
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465706
Supporting Variants
SamplesHGDP00961
Known GenesSULF1
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)nssv541458
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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