A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944441



Internal ID30301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193422037..193422395hg38UCSC Ensembl
chr3:193139826..193140184hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452740
Supporting Variants
Samples
Known GenesATP13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944441
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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