A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721048



Internal ID144714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7503354..7504693hg38UCSC Ensembl
chr19:7568240..7569579hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524610
Supporting Variants
Samples
Known GenesC19orf45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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