A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2178014



Internal ID17849492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75061985..75064308hg38UCSC Ensembl
Innerchr2:75289112..75291435hg19UCSC Ensembl
Innerchr2:75142620..75144943hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382324
hg192324
hg182324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963624
Supporting Variants
SamplesHGDP01029
Known GenesTACR1
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)nssv2178014
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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