A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465698



Internal ID15179077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:61124234..61266906hg38UCSC Ensembl
Innerchr8:62036793..62179465hg19UCSC Ensembl
Innerchr8:62199347..62342019hg18UCSC Ensembl
Innerchr8:62199347..62342019hg17UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38142673
hg19142673
hg18142673
hg17142673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541451
Samples1780854327_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)nsv465698
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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