A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2206624



Internal ID17816558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138900847..138902725hg38UCSC Ensembl
Innerchr2:139658417..139660295hg19UCSC Ensembl
Innerchr2:139374887..139376765hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381879
hg191879
hg181879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963731
Supporting Variants
SamplesHGDP00927
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)nssv2206624
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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