A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516915



Internal ID15097522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133242259..133297090hg38UCSC Ensembl
Innerchr2:133999831..134054662hg19UCSC Ensembl
Innerchr2:133716301..133771132hg18UCSC Ensembl
Innerchr2:133833563..133888394hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3854832
hg1954832
hg1854832
hg1754832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679899, nssv674564, nssv657663, nssv654957, nssv682704, nssv680710
Samples
Known GenesMIR7853, NCKAP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516915
Frequency
Sample Size2026
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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