A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978779



Internal ID18613982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14916448..14919140hg38UCSC Ensembl
Innerchr19:15027260..15029952hg19UCSC Ensembl
Innerchr19:14888260..14890952hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382693
hg192693
hg182693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2136214, nssv2136212, nssv2136216, nssv2136213, nssv2136215, nssv2136210, nssv2136209, nssv2136208, nssv2136211, nssv2136217
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978779
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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