A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2158245



Internal ID17820664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53073340..53076796hg38UCSC Ensembl
Innerchr19:53576593..53580049hg19UCSC Ensembl
Innerchr19:58268405..58271861hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383457
hg193457
hg183457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963073
Supporting Variants
SamplesHGDP00927
Known GenesZNF160
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)nssv2158245
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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