A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720723



Internal ID144389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4544695..4544991hg38UCSC Ensembl
chr19:4544707..4545003hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525259
Supporting Variants
Samples
Known GenesSEMA6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720723
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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