A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1909618



Internal ID17762965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3467967..3470498hg38UCSC Ensembl
Innerchr12:3577133..3579664hg19UCSC Ensembl
Innerchr12:3447394..3449925hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382532
hg192532
hg182532
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976557
Supporting Variants
SamplesHGDP00542
Known GenesPRMT8
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)nssv1909618
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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