A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543527



Internal ID317769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41716782..41718447hg38UCSC Ensembl
chr21:43136942..43138607hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727012
Samples
Known GenesLINC00112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543527
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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