A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2160223



Internal ID17882814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54272549..54289938hg38UCSC Ensembl
Innerchr19:54776403..54793793hg19UCSC Ensembl
Innerchr19:59468215..59485605hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817390
hg1917391
hg1817391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963078
Supporting Variants
SamplesHGDP01307
Known GenesLILRB2, MIR4752
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)nssv2160223
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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