A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946139



Internal ID18592989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111378544..111381663hg38UCSC Ensembl
Innerchr1:111921166..111924285hg19UCSC Ensembl
Innerchr1:111722689..111725808hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383120
hg193120
hg183120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1781955, nssv1781957, nssv1781956, nssv1781958, nssv1781959, nssv1781962, nssv1781953, nssv1781960, nssv1781961, nssv1781954
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)nsv946139
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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