A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1926648



Internal ID17777884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41545426..41547242hg38UCSC Ensembl
Innerchr12:41939228..41941044hg19UCSC Ensembl
Innerchr12:40225495..40227311hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381817
hg191817
hg181817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983313
Supporting Variants
SamplesHGDP00665
Known GenesPDZRN4
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)nssv1926648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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