A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312319



Internal ID17835705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:13627951..13633196hg38UCSC Ensembl
Innerchr4:13629575..13634820hg19UCSC Ensembl
Innerchr4:13238673..13243918hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg385246
hg195246
hg185246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967726
Supporting Variants
SamplesHGDP00998
Known GenesMIR5091
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)nssv2312319
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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