A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968285



Internal ID18603513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179519893..179525710hg38UCSC Ensembl
Innerchr5:178946894..178952711hg19UCSC Ensembl
Innerchr5:178879500..178885317hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385818
hg195818
hg185818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2389119, nssv2389118, nssv2389116, nssv2389110, nssv2389115, nssv2389112, nssv2389117, nssv2389114, nssv2389113, nssv2389111
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)nsv968285
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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