A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1924830



Internal ID17779386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32985823..32988036hg38UCSC Ensembl
Innerchr12:33138757..33140970hg19UCSC Ensembl
Innerchr12:33030024..33032237hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382214
hg192214
hg182214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976596
Supporting Variants
SamplesHGDP00665
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)nssv1924830
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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