A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541481



Internal ID15508970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83616035..83647386hg38UCSC Ensembl
Innerchr8:84528270..84559621hg19UCSC Ensembl
Innerchr8:84690825..84722176hg18UCSC Ensembl
Innerchr8:84690825..84722176hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3831352
hg1931352
hg1831352
hg1731352
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465731
Supporting Variants
SamplesHGDP00926
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)nssv541481
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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