A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2154441



Internal ID17491819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49031366..49033751hg38UCSC Ensembl
Innerchr19:49534623..49537008hg19UCSC Ensembl
Innerchr19:54226435..54228820hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382386
hg192386
hg182386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960856
Supporting Variants
SamplesHGDP00998
Known GenesCGB2, SNAR-G2
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)nssv2154441
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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