A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974743



Internal ID18609952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:10001..19367hg38UCSC Ensembl
Innerchr16:60001..69367hg19UCSC Ensembl
Innerchr16:1..9367hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389367
hg199367
hg189367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2627069, nssv2039447, nssv2627071, nssv2039450, nssv2627075, nssv2627074, nssv2627072, nssv2627073, nssv2627068, nssv2627070, nssv2039444, nssv2627066, nssv2039443, nssv2039442, nssv2039445, nssv2039449, nssv2039448, nssv2039446, nssv2039441, nssv2627067
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDDX11L10, LOC100288778, MIR6859-1, MIR6859-2
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974743
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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