A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946056



Internal ID18592906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89055777..89057181hg38UCSC Ensembl
Innerchr1:89521460..89522864hg19UCSC Ensembl
Innerchr1:89294048..89295452hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1774339, nssv1774345, nssv1774342, nssv1774338, nssv1774341, nssv1774336, nssv1774340, nssv1774343, nssv1774337, nssv1774344
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGBP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946056
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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