A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542812



Internal ID317194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34849271..34849444hg38UCSC Ensembl
chr21:36221568..36221741hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734736
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542812
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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