A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465431



Internal ID15525496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5888330..6390723hg38UCSC Ensembl
Innerchr8:5745852..6248244hg19UCSC Ensembl
Innerchr8:5733260..6235652hg18UCSC Ensembl
Innerchr8:5733260..6235652hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38502394
hg19502393
hg18502393
hg17502393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541228
SamplesNINDS_219
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)nsv465431
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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