A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415993



Internal ID22473863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193511677..193511780hg38UCSC Ensembl
chr3:193229466..193229569hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901636
Supporting Variants
Samples
Known GenesATP13A4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415993
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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