A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960855



Internal ID18596102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45687616..45691490hg38UCSC Ensembl
Innerchr19:46190874..46194748hg19UCSC Ensembl
Innerchr19:50882714..50886588hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383875
hg193875
hg183875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2153058, nssv2153059, nssv2153066, nssv2153063, nssv2153062, nssv2153060, nssv2153064, nssv2153065, nssv2153061, nssv2153057
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNRPD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960855
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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