A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2218052



Internal ID17786698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201138333..201138925hg38UCSC Ensembl
Innerchr2:202003056..202003648hg19UCSC Ensembl
Innerchr2:201711301..201711893hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961546
Supporting Variants
SamplesHGDP00665
Known GenesCFLAR
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)nssv2218052
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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