A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946089



Internal ID18246253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:96677881..96681817hg38UCSC Ensembl
Innerchr1:97143437..97147373hg19UCSC Ensembl
Innerchr1:96916025..96919961hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg383937
hg193937
hg183937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1778689, nssv1778684, nssv1778692, nssv1778693, nssv1778690, nssv1778687, nssv1778688, nssv1778691, nssv1778685, nssv1778686
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)nsv946089
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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