A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2168223



Internal ID17727754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28014119..28016839hg38UCSC Ensembl
Innerchr2:28236986..28239706hg19UCSC Ensembl
Innerchr2:28090490..28093210hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382721
hg192721
hg182721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978989
Supporting Variants
SamplesHGDP00456
Known GenesBRE
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)nssv2168223
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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