A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946074



Internal ID18592924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:92114658..92122909hg38UCSC Ensembl
Innerchr1:92580215..92588466hg19UCSC Ensembl
Innerchr1:92352803..92361054hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg388252
hg198252
hg188252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1777247, nssv1777241, nssv1777245, nssv1777249, nssv1777243, nssv1777246, nssv1777242, nssv1777250, nssv1777244, nssv1777248
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBTBD8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946074
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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