A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2204750



Internal ID17490463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131340361..131401422hg38UCSC Ensembl
Innerchr2:132097934..132158995hg19UCSC Ensembl
Innerchr2:131814404..131875465hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3861062
hg1961062
hg1861062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979122
Supporting Variants
SamplesHGDP00998
Known GenesWTH3DI
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)nssv2204750
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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