A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2207135



Internal ID17384016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:152389823..152390598hg38UCSC Ensembl
Innerchr2:153246337..153247112hg19UCSC Ensembl
Innerchr2:152954583..152955358hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38776
hg19776
hg18776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979137
Supporting Variants
SamplesHGDP00456
Known GenesFMNL2
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)nssv2207135
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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