A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946060



Internal ID18592910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89064564..89065276hg38UCSC Ensembl
Innerchr1:89530247..89530959hg19UCSC Ensembl
Innerchr1:89302835..89303547hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38713
hg19713
hg18713
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1775228, nssv1775232, nssv1775226, nssv1775229, nssv1775231, nssv1775230, nssv1775227, nssv1775233, nssv1775234, nssv1775235
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)nsv946060
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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