A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2314124



Internal ID17513342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38796615..38797702hg38UCSC Ensembl
Innerchr4:38798236..38799323hg19UCSC Ensembl
Innerchr4:38474631..38475718hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966262
Supporting Variants
SamplesHGDP01284
Known GenesTLR1
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)nssv2314124
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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