A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220862



Internal ID17885244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221962397..221965698hg38UCSC Ensembl
Innerchr2:222827116..222830417hg19UCSC Ensembl
Innerchr2:222535360..222538661hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383302
hg193302
hg183302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961567
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)nssv2220862
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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