A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541252



Internal ID15510351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8461340..8593251hg38UCSC Ensembl
Innerchr8:8318850..8450761hg19UCSC Ensembl
Innerchr8:8356260..8488171hg18UCSC Ensembl
Innerchr8:8356260..8488171hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38131912
hg19131912
hg18131912
hg17131912
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465457
Supporting Variants
SamplesHGDP01234
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)nssv541252
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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