A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1936619



Internal ID17467776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:65757830..65761194hg38UCSC Ensembl
Innerchr12:66151610..66154974hg19UCSC Ensembl
Innerchr12:64437877..64441241hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg383365
hg193365
hg183365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975507
Supporting Variants
SamplesHGDP00927
Known GenesRPSAP52
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)nssv1936619
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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