A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562824



Internal ID22431568
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292258, nssv14292259
SamplesNA19238, NA19240
Known GenesLTBP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562824
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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