A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897429



Internal ID172440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225830625..225830710hg38UCSC Ensembl
chr1:226018326..226018411hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445653
Supporting Variants
Samples
Known GenesEPHX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897429
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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