A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2045377



Internal ID17423435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14990505..15014470hg38UCSC Ensembl
Innerchr16:15084362..15108327hg19UCSC Ensembl
Innerchr16:14991863..15015828hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3823966
hg1923966
hg1823966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977115
Supporting Variants
SamplesHGDP00542
Known GenesMIR1972-1, MIR1972-2, PDXDC1
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)nssv2045377
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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