A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531494



Internal ID307454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14585000..14590000hg38UCSC Ensembl
chr19:14695812..14700812hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721714
Samples
Known GenesCLEC17A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531494
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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