A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440312



Internal ID218824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73875103..73875708hg38UCSC Ensembl
chr2:74102230..74102835hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38606
hg19606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914058
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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