A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438772



Internal ID217326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213963835..213964047hg38UCSC Ensembl
chr1:214137178..214137390hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896177
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438772
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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