A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2167348



Internal ID17441496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31865758..31868548hg38UCSC Ensembl
Innerchr2:32090827..32093617hg19UCSC Ensembl
Innerchr2:31944331..31947121hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382791
hg192791
hg182791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963219
Supporting Variants
SamplesHGDP00665
Known GenesMEMO1
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)nssv2167348
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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