A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723724



Internal ID147390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47024832..47025445hg38UCSC Ensembl
chr19:47528089..47528702hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533848
Supporting Variants
Samples
Known GenesNPAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723724
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.251475


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