A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213784



Internal ID17730510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177195388..177199721hg38UCSC Ensembl
Innerchr2:178060116..178064449hg19UCSC Ensembl
Innerchr2:177768362..177772695hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg384334
hg194334
hg184334
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979153
Supporting Variants
SamplesHGDP00456
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)nssv2213784
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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