A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517101



Internal ID293531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43269030..43269108hg38UCSC Ensembl
chr18:40848995..40849073hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717732
Samples
Known GenesSYT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517101
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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