A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2280461



Internal ID17798987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47662709..47664067hg38UCSC Ensembl
Innerchr3:47704199..47705557hg19UCSC Ensembl
Innerchr3:47679203..47680561hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381359
hg191359
hg181359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967013
Supporting Variants
SamplesHGDP00778
Known GenesSMARCC1
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)nssv2280461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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