A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2374636



Internal ID17838834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123399131..123402307hg38UCSC Ensembl
Innerchr5:122734825..122738001hg19UCSC Ensembl
Innerchr5:122762724..122765900hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383177
hg193177
hg183177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968238
Supporting Variants
SamplesHGDP00998
Known GenesCEP120
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)nssv2374636
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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