A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418811



Internal ID197968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40835897..40836075hg38UCSC Ensembl
chr1:41301569..41301747hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904805
Samples
Known GenesKCNQ4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418811
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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