A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937045



Internal ID25412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97272668..97277325hg38UCSC Ensembl
chr3:96991512..96996169hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg384658
hg194658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435483
Supporting Variants
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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