A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984286



Internal ID18272788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18984282..18998867hg38UCSC Ensembl
Innerchr16:18995604..19010189hg19UCSC Ensembl
Innerchr16:18903105..18917690hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3814586
hg1914586
hg1814586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2050320, nssv2050322, nssv2050326, nssv2050323, nssv2050325, nssv2050328, nssv2050329, nssv2050324, nssv2050327, nssv2050321
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTMC7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984286
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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