A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445715



Internal ID224060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85510758..85510885hg38UCSC Ensembl
chr2:85737881..85738008hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729974
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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