A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2148527



Internal ID17517362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39244930..39248876hg38UCSC Ensembl
Innerchr19:39735570..39739516hg19UCSC Ensembl
Innerchr19:44427410..44431356hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383947
hg193947
hg183947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963046
Supporting Variants
SamplesHGDP01284
Known GenesIFNL3, IFNL4
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)nssv2148527
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