A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530028



Internal ID306024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33097973..33098553hg38UCSC Ensembl
chr19:33588879..33589459hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17722859
Samples
Known GenesGPATCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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