A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2278730



Internal ID17385916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37134740..37136849hg38UCSC Ensembl
Innerchr3:37176231..37178340hg19UCSC Ensembl
Innerchr3:37151235..37153344hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg382110
hg192110
hg182110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965157
Supporting Variants
SamplesHGDP00456
Known GenesLRRFIP2
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)nssv2278730
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