A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458958



Internal ID15519023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:26134874..26265450hg38UCSC Ensembl
Innerchr20:26115510..26246086hg19UCSC Ensembl
Innerchr20:26063510..26194086hg18UCSC Ensembl
Innerchr20:26063510..26194086hg17UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38130577
hg19130577
hg18130577
hg17130577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv509n27
Supporting Variantsnssv535811
SamplesHGDP00187
Known GenesLOC284801, MIR663A
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)nsv458958
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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