A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946129



Internal ID18592979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109046997..109050338hg38UCSC Ensembl
Innerchr1:109589619..109592960hg19UCSC Ensembl
Innerchr1:109391142..109394483hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383342
hg193342
hg183342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1781881, nssv1781883, nssv1781884, nssv1781885, nssv1781882, nssv1781877, nssv1781880, nssv1781876, nssv1781878, nssv1781879
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)nsv946129
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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