A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2217062



Internal ID17862580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199659701..199662424hg38UCSC Ensembl
Innerchr2:200524424..200527147hg19UCSC Ensembl
Innerchr2:200232669..200235392hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382724
hg192724
hg182724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979163
Supporting Variants
SamplesHGDP01284
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)nssv2217062
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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