A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559864



Internal ID332884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94913492..94913527hg38UCSC Ensembl
chr1:95379048..95379083hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906969
Samples
Known GenesCNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559864
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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