A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv945915



Internal ID18592765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44986568..44990062hg38UCSC Ensembl
Innerchr1:45452240..45455734hg19UCSC Ensembl
Innerchr1:45224827..45228321hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383495
hg193495
hg183495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1764417, nssv1764418, nssv1764423, nssv1764421, nssv1764424, nssv1764422, nssv1764420, nssv1764419, nssv1764425, nssv1764416
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF2B3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv945915
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