A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147313



Internal ID17515008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39266336..39270084hg38UCSC Ensembl
Innerchr19:39756976..39760724hg19UCSC Ensembl
Innerchr19:44448816..44452564hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383749
hg193749
hg183749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978814
Supporting Variants
SamplesHGDP01284
Known GenesIFNL2
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)nssv2147313
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