A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2143361



Internal ID17383470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:32952562..32953710hg38UCSC Ensembl
Innerchr19:33443468..33444616hg19UCSC Ensembl
Innerchr19:38135308..38136456hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960824
Supporting Variants
SamplesHGDP00456
Known GenesCEP89
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2143361
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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