A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14292259



Internal ID22306845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33277760..33277760hg38UCSC Ensembl
chr2:33502827..33502827hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562824
Supporting Variants
SamplesNA19240
Known GenesLTBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14292259
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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