A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541576



Internal ID15512931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136835409hg38UCSC Ensembl
Innerchr8:137687955..137847652hg19UCSC Ensembl
Innerchr8:137757137..137916834hg18UCSC Ensembl
Innerchr8:137757137..137916834hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38159698
hg19159698
hg18159698
hg17159698
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465858
Supporting Variants
SamplesNINDS_82
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)nssv541576
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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