A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1943643



Internal ID17746212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106899887..106902700hg38UCSC Ensembl
Innerchr12:107293665..107296478hg19UCSC Ensembl
Innerchr12:105817795..105820608hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382814
hg192814
hg182814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983362
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)nssv1943643
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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