A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2155497



Internal ID17860796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52277054..52282293hg38UCSC Ensembl
Innerchr19:52780307..52785546hg19UCSC Ensembl
Innerchr19:57472119..57477358hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385240
hg195240
hg185240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960862
Supporting Variants
SamplesHGDP01284
Known GenesMIR643, ZNF766
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)nssv2155497
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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