A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946057



Internal ID18592907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89059480..89062902hg38UCSC Ensembl
Innerchr1:89525163..89528585hg19UCSC Ensembl
Innerchr1:89297751..89301173hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg383423
hg193423
hg183423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1775058, nssv1775050, nssv1775054, nssv1775056, nssv1775057, nssv1775055, nssv1775052, nssv1775053, nssv1775049, nssv1775051
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)nsv946057
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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