A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2200518



Internal ID17888120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113521071..113535805hg38UCSC Ensembl
Innerchr2:114278648..114293382hg19UCSC Ensembl
Innerchr2:113995118..114009852hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3814735
hg1914735
hg1814735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979107
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2200518
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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