A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968171



Internal ID18603399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:43665047..43674237hg38UCSC Ensembl
Innerchr5:43665149..43674339hg19UCSC Ensembl
Innerchr5:43700906..43710096hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg389191
hg199191
hg189191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2356143, nssv2356138, nssv2356139, nssv2356137, nssv2356135, nssv2356140, nssv2356144, nssv2356142, nssv2356141, nssv2356136
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNNT
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968171
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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