A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537763



Internal ID312994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37903642..37903655hg38UCSC Ensembl
chr2:38130785..38130798hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911842
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537763
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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