A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541589



Internal ID15503399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136839412hg38UCSC Ensembl
Innerchr8:137687955..137851655hg19UCSC Ensembl
Innerchr8:137757137..137920837hg18UCSC Ensembl
Innerchr8:137757137..137920837hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38163701
hg19163701
hg18163701
hg17163701
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465871
Supporting Variants
Samples1780862227_A
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)nssv541589
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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