A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2153621



Internal ID17820082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46558604..46560632hg38UCSC Ensembl
Innerchr19:47061861..47063889hg19UCSC Ensembl
Innerchr19:51753701..51755729hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382029
hg192029
hg182029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978831
Supporting Variants
SamplesHGDP00927
Known GenesPPP5D1
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)nssv2153621
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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