A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946062



Internal ID18592912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89395105..89421407hg38UCSC Ensembl
Innerchr1:89860664..89886966hg19UCSC Ensembl
Innerchr1:89633252..89659554hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3826303
hg1926303
hg1826303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1775412, nssv1775406, nssv1775410, nssv1775408, nssv1775405, nssv1775409, nssv1775411, nssv1775403, nssv1775404, nssv1775407
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGBP1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946062
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer