A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2203313



Internal ID17884702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130404842..130430925hg38UCSC Ensembl
Innerchr2:131162415..131188498hg19UCSC Ensembl
Innerchr2:130878885..130904968hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3826084
hg1926084
hg1826084
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963720
Supporting Variants
SamplesHGDP01307
Known GenesFAR2P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2203313
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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