A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1913217



Internal ID17780834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8189663..8209643hg38UCSC Ensembl
Innerchr12:8342259..8362239hg19UCSC Ensembl
Innerchr12:8233526..8253506hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3819981
hg1919981
hg1819981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv983270
Supporting Variants
SamplesHGDP00665
Known GenesFAM66C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1913217
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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