A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381103



Internal ID17539961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141209299..141211497hg38UCSC Ensembl
Innerchr5:140588871..140591069hg19UCSC Ensembl
Innerchr5:140569055..140571253hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980737
Supporting Variants
SamplesHGDP01307
Known GenesPCDHB12
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)nssv2381103
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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