A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2308780



Internal ID17770205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:10001..42726hg38UCSC Ensembl
Innerchr4:10001..42727hg19UCSC Ensembl
Innerchr4:1..32727hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3832726
hg1932727
hg1832727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967713
Supporting Variants
SamplesHGDP00542
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)nssv2308780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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