A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1947045



Internal ID17417173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122364118..122366910hg38UCSC Ensembl
Innerchr12:122848665..122851457hg19UCSC Ensembl
Innerchr12:121414618..121417410hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382793
hg192793
hg182793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973131
Supporting Variants
SamplesHGDP00542
Known GenesCLIP1
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)nssv1947045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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