A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945956



Internal ID18592806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53973241..53976270hg38UCSC Ensembl
Innerchr1:54438914..54441943hg19UCSC Ensembl
Innerchr1:54211502..54214531hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383030
hg193030
hg183030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1768731, nssv1768724, nssv1768723, nssv1768732, nssv1768729, nssv1768730, nssv1768726, nssv1768725, nssv1768728, nssv1768727
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)nsv945956
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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