A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554157



Internal ID327353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105600225..105600276hg38UCSC Ensembl
chr2:106216682..106216733hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917107
Samples
Known GenesLOC285000
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554157
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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