A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2331029



Internal ID17863230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109546103..109554886hg38UCSC Ensembl
Innerchr4:110467259..110476042hg19UCSC Ensembl
Innerchr4:110686708..110695491hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg388784
hg198784
hg188784
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980240
Supporting Variants
SamplesHGDP01284
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)nssv2331029
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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