A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555359



Internal ID328518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67579709..67579760hg38UCSC Ensembl
chr2:67806841..67806892hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914642
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555359
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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