A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2375545



Internal ID17526352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131359314..131362275hg38UCSC Ensembl
Innerchr5:130695007..130697968hg19UCSC Ensembl
Innerchr5:130722906..130725867hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382962
hg192962
hg182962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968242
Supporting Variants
SamplesHGDP01284
Known GenesCDC42SE2
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)nssv2375545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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