A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541454



Internal ID15509438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66463284..66472853hg38UCSC Ensembl
Innerchr8:67375519..67385088hg19UCSC Ensembl
Innerchr8:67538073..67547642hg18UCSC Ensembl
Innerchr8:67538073..67547642hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg389570
hg199570
hg189570
hg179570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465702
Supporting Variants
SamplesHGDP01009
Known GenesADHFE1
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)nssv541454
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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