A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1941890



Internal ID17764575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101486439..101487997hg38UCSC Ensembl
Innerchr12:101880217..101881775hg19UCSC Ensembl
Innerchr12:100404348..100405906hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381559
hg191559
hg181559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973109
Supporting Variants
SamplesHGDP00542
Known GenesSPIC
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)nssv1941890
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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