A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549485



Internal ID15990208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619527..243620430hg38UCSC Ensembl
Innerchr1:243782829..243783732hg19UCSC Ensembl
Innerchr1:241849452..241850355hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38904
hg19904
hg18904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv880n54
Supporting Variantsnssv739281, nssv739270, nssv739286, nssv739284, nssv739273, nssv739277, nssv739272, nssv739279, nssv739285, nssv739278, nssv739287, nssv739282, nssv739275, nssv739271, nssv739283, nssv739280, nssv739276, nssv739274
Samples
Known GenesAKT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549485
Frequency
Sample Size17421
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer