A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459307



Internal ID15172686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130185940..130352524hg38UCSC Ensembl
Innerchr2:130943513..131110097hg19UCSC Ensembl
Innerchr2:130659983..130826567hg18UCSC Ensembl
Innerchr2:130659743..130826327hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38166585
hg19166585
hg18166585
hg17166585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475n27
Supporting Variantsnssv536083
SamplesHGDP01328
Known GenesCCDC115, IMP4, MZT2B, TUBA3E
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)nsv459307
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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