A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2324005



Internal ID17886228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:75581872..75583603hg38UCSC Ensembl
Innerchr4:76507082..76508813hg19UCSC Ensembl
Innerchr4:76726106..76727837hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381732
hg191732
hg181732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966285
Supporting Variants
SamplesHGDP01307
Known GenesCDKL2
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)nssv2324005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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