A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448291



Internal ID226571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2572935..2573374hg38UCSC Ensembl
chr2:2576707..2577146hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900885
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448291
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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