A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2380097



Internal ID17841333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140827938..140829779hg38UCSC Ensembl
Innerchr5:140207523..140209364hg19UCSC Ensembl
Innerchr5:140187707..140189548hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381842
hg191842
hg181842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964951
Supporting Variants
SamplesHGDP00998
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6
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)nssv2380097
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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