A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946275



Internal ID18593125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145432119..145480142hg38UCSC Ensembl
Innerchr1:145945530..145983775hg19UCSC Ensembl
Innerchr1:144656887..144695132hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3848024
hg1938246
hg1838246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1790585, nssv1790588, nssv1790586, nssv1790584, nssv1790587, nssv1790591, nssv1790589, nssv1790593, nssv1790592, nssv1790590
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946275
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