A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195689



Internal ID22345822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27410524..27410795hg38UCSC Ensembl
chr2:27633391..27633662hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14292065
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195689
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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