A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518751



Internal ID15446044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28860984..28877776hg38UCSC Ensembl
Innerchr2:29083850..29100642hg19UCSC Ensembl
Innerchr2:28937354..28954146hg18UCSC Ensembl
Innerchr2:28995501..29012293hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3816793
hg1916793
hg1816793
hg1716793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696200
Samples
Known GenesTRMT61B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518751
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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