A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530470



Internal ID306454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12905579..12910587hg38UCSC Ensembl
chr19:13016393..13021401hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385009
hg195009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721549
Samples
Known GenesSYCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530470
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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