A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964912



Internal ID18600148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99521566..99536611hg38UCSC Ensembl
Innerchr5:98857270..98872315hg19UCSC Ensembl
Innerchr5:98885169..98900214hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3815046
hg1915046
hg1815046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2369664, nssv2369663, nssv2369662, nssv2369660, nssv2369668, nssv2369659, nssv2369661, nssv2369667, nssv2369666, nssv2369665
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)nsv964912
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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