A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2217155



Internal ID17884272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201060768..201064748hg38UCSC Ensembl
Innerchr2:201925491..201929471hg19UCSC Ensembl
Innerchr2:201633736..201637716hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383981
hg193981
hg183981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963759
Supporting Variants
SamplesHGDP01307
Known GenesFAM126B
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)nssv2217155
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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