A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466025



Internal ID15526090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144999726..145067700hg38UCSC Ensembl
Innerchr8:146225112..146293086hg19UCSC Ensembl
Innerchr8:146195916..146263890hg18UCSC Ensembl
Innerchr8:146195916..146263890hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3867975
hg1967975
hg1867975
hg1767975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541671
SamplesHGDP00475
Known GenesC8orf33, ZNF252P, ZNF252P-AS1
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)nsv466025
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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