A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465703



Internal ID15525768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68729052..68902343hg38UCSC Ensembl
Innerchr8:69641287..69814578hg19UCSC Ensembl
Innerchr8:69803841..69977132hg18UCSC Ensembl
Innerchr8:69803841..69977132hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38173292
hg19173292
hg18173292
hg17173292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541455
SamplesHGDP01169
Known GenesC8orf34
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)nsv465703
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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