A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2332222



Internal ID17742880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:110415129..110419118hg38UCSC Ensembl
Innerchr4:111336285..111340274hg19UCSC Ensembl
Innerchr4:111555734..111559723hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg383990
hg193990
hg183990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980241
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2332222
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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