A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422955



Internal ID201983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38232758..38232809hg38UCSC Ensembl
chr21:39604680..39604731hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726823
Samples
Known GenesKCNJ15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422955
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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