A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978103



Internal ID18613308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18855037..18863192hg38UCSC Ensembl
Innerchr16:18866359..18874514hg19UCSC Ensembl
Innerchr16:18773860..18782015hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388156
hg198156
hg188156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2631260, nssv2631253, nssv2631261, nssv2631257, nssv2631254, nssv2631262, nssv2631256, nssv2631258, nssv2631255, nssv2631259
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMG1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978103
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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