A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984285



Internal ID18619473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18855037..18926987hg38UCSC Ensembl
Innerchr16:18866359..18938309hg19UCSC Ensembl
Innerchr16:18773860..18845810hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3871951
hg1971951
hg1871951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2050247, nssv2050245, nssv2050243, nssv2050240, nssv2050244, nssv2050249, nssv2050241, nssv2050248, nssv2050246, nssv2050242
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984285
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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