A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401303



Internal ID180680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77422275..77422326hg38UCSC Ensembl
chr10:79182033..79182084hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036649
Samples
Known GenesKCNMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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