A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2383182



Internal ID17740491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:144522224..144523077hg38UCSC Ensembl
Innerchr5:143901787..143902640hg19UCSC Ensembl
Innerchr5:143881980..143882833hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38854
hg19854
hg18854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980742
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)nssv2383182
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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