A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2212459



Internal ID17855734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170746110..170752922hg38UCSC Ensembl
Innerchr2:171602620..171609432hg19UCSC Ensembl
Innerchr2:171310866..171317678hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386813
hg196813
hg186813
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963746
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)nssv2212459
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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