A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543843



Internal ID318062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30603727..30614083hg38UCSC Ensembl
chr21:31976046..31986402hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3810357
hg1910357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734596
Samples
Known GenesKRTAP6-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543843
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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