A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946100



Internal ID18592950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101264846..101278910hg38UCSC Ensembl
Innerchr1:101730402..101744466hg19UCSC Ensembl
Innerchr1:101502990..101517054hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3814065
hg1914065
hg1814065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1779349, nssv1779347, nssv1779353, nssv1779350, nssv1779352, nssv1779348, nssv1779354, nssv1779351, nssv1779356, nssv1779355
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)nsv946100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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