A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2520708



Internal ID17839234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142994352..142998043hg38UCSC Ensembl
Innerchr8:144075769..144079460hg19UCSC Ensembl
Innerchr8:144147144..144150835hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383692
hg193692
hg183692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971357
Supporting Variants
SamplesHGDP00998
Known GenesCDC42P3, LOC100133669
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)nssv2520708
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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