A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916480



Internal ID17736362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11267201..11310612hg38UCSC Ensembl
Innerchr12:11420134..11463546hg19UCSC Ensembl
Innerchr12:11311401..11354813hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3843412
hg1943413
hg1843413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975451
Supporting Variants
SamplesHGDP00456
Known GenesPRB3, PRB4
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)nssv1916480
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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