A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904805



Internal ID4024
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 StatusS
Merged Variantsnsv5418811
Supporting Variants
Samples
Known GenesKCNQ4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904805
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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