A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2216836



Internal ID17817082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202239099..202245799hg38UCSC Ensembl
Innerchr2:203103822..203110522hg19UCSC Ensembl
Innerchr2:202812067..202818767hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386701
hg196701
hg186701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961551
Supporting Variants
SamplesHGDP00927
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)nssv2216836
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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