A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220162



Internal ID17800551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203764166..203774485hg38UCSC Ensembl
Innerchr2:204628889..204639208hg19UCSC Ensembl
Innerchr2:204337134..204347453hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3810320
hg1910320
hg1810320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963766
Supporting Variants
SamplesHGDP00778
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)nssv2220162
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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