A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545599



Internal ID319625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38763967..38771820hg38UCSC Ensembl
chr21:40135891..40143744hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg387854
hg197854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726855
Samples
Known GenesLINC00114
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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