A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534211



Internal ID310048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201166451..201166462hg38UCSC Ensembl
chr2:202031174..202031185hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923675
Samples
Known GenesCFLAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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