A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963390



Internal ID18598631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186789057..186789772hg38UCSC Ensembl
Innerchr3:186506846..186507561hg19UCSC Ensembl
Innerchr3:187989540..187990255hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38716
hg19716
hg18716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2305971, nssv2305970, nssv2305968, nssv2305965, nssv2305966, nssv2305972, nssv2305967, nssv2305973, nssv2305969, nssv2305974
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEIF4A2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963390
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