A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544801



Internal ID318907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44916474..44942268hg38UCSC Ensembl
chr21:46336389..46362183hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3825795
hg1925795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727172
Samples
Known GenesC21orf67, FAM207A, ITGB2, ITGB2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544801
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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