A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541369



Internal ID15510007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16129350..16171585hg38UCSC Ensembl
Innerchr8:15986859..16029094hg19UCSC Ensembl
Innerchr8:16031230..16073465hg18UCSC Ensembl
Innerchr8:16031230..16073465hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3842236
hg1942236
hg1842236
hg1742236
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465582
Supporting Variants
SamplesHGDP01172
Known GenesMSR1
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)nssv541369
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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