A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946478



Internal ID18593328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:164920607..164922635hg38UCSC Ensembl
Innerchr1:164889844..164891872hg19UCSC Ensembl
Innerchr1:163156468..163158496hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382029
hg192029
hg182029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1805381, nssv1805390, nssv1805383, nssv1805389, nssv1805388, nssv1805386, nssv1805382, nssv1805387, nssv1805385, nssv1805384
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)nsv946478
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