A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720762



Internal ID144428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4830005..4830180hg38UCSC Ensembl
chr19:4830017..4830192hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514296
Supporting Variants
Samples
Known GenesTICAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004995


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