A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318778



Internal ID17816930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49541953..49611538hg38UCSC Ensembl
Innerchr4:49543970..49613555hg19UCSC Ensembl
Innerchr4:49238727..49308312hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3869586
hg1969586
hg1869586
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966268
Supporting Variants
SamplesHGDP00927
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)nssv2318778
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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