A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946048



Internal ID18592898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:87502301..87508193hg38UCSC Ensembl
Innerchr1:87967984..87973876hg19UCSC Ensembl
Innerchr1:87740572..87746464hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg385893
hg195893
hg185893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1775677, nssv1774642, nssv1775678, nssv1775682, nssv1775680, nssv1775683, nssv1775679, nssv1775684, nssv1775685, nssv1775681
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946048
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