A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465464



Internal ID15525529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:10680430..10707753hg38UCSC Ensembl
Innerchr8:10537940..10565263hg19UCSC Ensembl
Innerchr8:10575350..10602673hg18UCSC Ensembl
Innerchr8:10575350..10602673hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827324
hg1927324
hg1827324
hg1727324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv865n27
Supporting Variantsnssv541258
Samples1780854535_A
Known GenesC8orf74
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)nsv465464
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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