A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553671



Internal ID326898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70099038..70099073hg38UCSC Ensembl
chr2:70326170..70326205hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914041
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553671
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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