A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946013



Internal ID18592863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80283272..80283772hg38UCSC Ensembl
Innerchr1:80748957..80749457hg19UCSC Ensembl
Innerchr1:80521545..80522045hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1772708, nssv1772709, nssv1772707, nssv1772711, nssv1772710, nssv1772704, nssv1772703, nssv1772712, nssv1772705, nssv1772706
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)nsv946013
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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