A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2218743



Internal ID17474766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202205622..202207296hg38UCSC Ensembl
Innerchr2:203070345..203072019hg19UCSC Ensembl
Innerchr2:202778590..202780264hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381675
hg191675
hg181675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961549
Supporting Variants
SamplesHGDP00927
Known GenesSUMO1
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)nssv2218743
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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