A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1932178



Internal ID17869176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54800911..54803851hg38UCSC Ensembl
Innerchr12:55194695..55197635hg19UCSC Ensembl
Innerchr12:53480962..53483902hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382941
hg192941
hg182941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983331
Supporting Variants
SamplesHGDP01284
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)nssv1932178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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