A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2203802



Internal ID17819066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140217099..140225144hg38UCSC Ensembl
Innerchr2:140974668..140982713hg19UCSC Ensembl
Innerchr2:140691138..140699183hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg388046
hg198046
hg188046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979131
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)nssv2203802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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