A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715771



Internal ID139437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:340908..547677hg38UCSC Ensembl
chr18:340908..547677hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38206770
hg19206770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144824
Supporting Variants
Samples
Known GenesCOLEC12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715771
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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