A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215898



Internal ID17727562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187819168..187827581hg38UCSC Ensembl
Innerchr2:188683895..188692308hg19UCSC Ensembl
Innerchr2:188392140..188400553hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg388414
hg198414
hg188414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961540
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)nssv2215898
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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