A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2280385



Internal ID17881668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51897860..51904323hg38UCSC Ensembl
Innerchr3:51931876..51938339hg19UCSC Ensembl
Innerchr3:51906916..51913379hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386464
hg196464
hg186464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963317
Supporting Variants
SamplesHGDP01307
Known GenesIQCF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2280385
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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