A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440988



Internal ID219479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203785666..203785769hg38UCSC Ensembl
chr2:204650389..204650492hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924679
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440988
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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