A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984250



Internal ID18619438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2100487..2136229hg38UCSC Ensembl
Innerchr16:2150488..2186230hg19UCSC Ensembl
Innerchr16:2090489..2126231hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3835743
hg1935743
hg1835743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2040079, nssv2040073, nssv2040071, nssv2040080, nssv2040076, nssv2040075, nssv2040072, nssv2040077, nssv2040078, nssv2040074
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR3180-5, MIR4516, MIR6511B-1, PKD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984250
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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