A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381507



Internal ID17868479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141240921..141242299hg38UCSC Ensembl
Innerchr5:140620489..140621867hg19UCSC Ensembl
Innerchr5:140600673..140602051hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381379
hg191379
hg181379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964960
Supporting Variants
SamplesHGDP01284
Known GenesPCDHB19P
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)nssv2381507
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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