A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904804



Internal ID4023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40808007..40808058hg38UCSC Ensembl
chr1:41273679..41273730hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432397
Supporting Variants
Samples
Known GenesKCNQ4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.014205


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