A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2220954



Internal ID17802513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214844413..214850573hg38UCSC Ensembl
Innerchr2:215709137..215715297hg19UCSC Ensembl
Innerchr2:215417382..215423542hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386161
hg196161
hg186161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979172
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)nssv2220954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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