A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2168128



Internal ID17847904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27740527..27747755hg38UCSC Ensembl
Innerchr2:27963394..27970622hg19UCSC Ensembl
Innerchr2:27816898..27824126hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg387229
hg197229
hg187229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978988
Supporting Variants
SamplesHGDP01029
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)nssv2168128
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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