A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2379901



Internal ID17402305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140807234..140809467hg38UCSC Ensembl
Innerchr5:140186819..140189052hg19UCSC Ensembl
Innerchr5:140167003..140169236hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382234
hg192234
hg182234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964949
Supporting Variants
SamplesHGDP00521
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4
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)nssv2379901
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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