A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2223983



Internal ID17884390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230567872..230575003hg38UCSC Ensembl
Innerchr2:231432587..231439718hg19UCSC Ensembl
Innerchr2:231140831..231147962hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387132
hg197132
hg187132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979181
Supporting Variants
SamplesHGDP01307
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)nssv2223983
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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