A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542973



Internal ID317327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33651908..33653059hg38UCSC Ensembl
chr21:35024214..35025365hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726678
Samples
Known GenesITSN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542973
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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