A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2293855



Internal ID17803505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132242980..132244928hg38UCSC Ensembl
Innerchr3:131961824..131963772hg19UCSC Ensembl
Innerchr3:133444514..133446462hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381949
hg191949
hg181949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967065
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2293855
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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