A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2325014



Internal ID17855122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82401204..82402448hg38UCSC Ensembl
Innerchr4:83322357..83323601hg19UCSC Ensembl
Innerchr4:83541381..83542625hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381245
hg191245
hg181245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980226
Supporting Variants
SamplesHGDP01029
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)nssv2325014
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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