A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379180



Internal ID17459774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140792809..140796823hg38UCSC Ensembl
Innerchr5:140172394..140176408hg19UCSC Ensembl
Innerchr5:140152578..140156592hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384015
hg194015
hg184015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964947
Supporting Variants
SamplesHGDP00778
Known GenesPCDHA1, PCDHA2
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)nssv2379180
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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