A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544430



Internal ID318575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37804201..37805026hg38UCSC Ensembl
chr21:39176504..39177329hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734795
Samples
Known GenesKCNJ6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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