A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1919591



Internal ID17746160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25399252..25412253hg38UCSC Ensembl
Innerchr12:25552186..25565187hg19UCSC Ensembl
Innerchr12:25443453..25456454hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813002
hg1913002
hg1813002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975461
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv1919591
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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