A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980743



Internal ID18615943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149543644..149547000hg38UCSC Ensembl
Innerchr5:148923207..148926563hg19UCSC Ensembl
Innerchr5:148903400..148906756hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2382818, nssv2382812, nssv2382817, nssv2382815, nssv2382816, nssv2382813, nssv2382811, nssv2382819, nssv2382820, nssv2382814
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSNK1A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980743
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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