A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1946183



Internal ID17778734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119954032..119964849hg38UCSC Ensembl
Innerchr12:120391836..120402653hg19UCSC Ensembl
Innerchr12:118876219..118887036hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3810818
hg1910818
hg1810818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973127
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)nssv1946183
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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