A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2216268



Internal ID17832271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:195334182..195340154hg38UCSC Ensembl
Innerchr2:196198906..196204878hg19UCSC Ensembl
Innerchr2:195907151..195913123hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg385973
hg195973
hg185973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979159
Supporting Variants
SamplesHGDP00998
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)nssv2216268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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