A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722843



Internal ID146509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32855697..32857145hg38UCSC Ensembl
chr19:33346603..33348051hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381449
hg191449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525920
Supporting Variants
Samples
Known GenesSLC7A9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722843
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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