A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1922818



Internal ID17813558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31595557..31598086hg38UCSC Ensembl
Innerchr12:31748491..31751020hg19UCSC Ensembl
Innerchr12:31639758..31642287hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382530
hg192530
hg182530
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975472
Supporting Variants
SamplesHGDP00927
Known GenesDENND5B-AS1
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)nssv1922818
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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