A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2282696



Internal ID17754082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50716163..50722382hg38UCSC Ensembl
Innerchr3:50753594..50759813hg19UCSC Ensembl
Innerchr3:50728598..50734817hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg386220
hg196220
hg186220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967016
Supporting Variants
SamplesHGDP00521
Known GenesDOCK3
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)nssv2282696
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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