A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523447



Internal ID299681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33144914..33157251hg38UCSC Ensembl
chr18:30724878..30737215hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3812338
hg1912338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717187
Samples
Known GenesCCDC178
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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