A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2167543



Internal ID17475020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28301717..28308589hg38UCSC Ensembl
Innerchr2:28524584..28531456hg19UCSC Ensembl
Innerchr2:28378088..28384960hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386873
hg196873
hg186873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963217
Supporting Variants
SamplesHGDP00927
Known GenesBRE, LOC100505716
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)nssv2167543
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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