A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542057



Internal ID316541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42737862..42737899hg38UCSC Ensembl
chr1:43203533..43203570hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901731
Samples
Known GenesCLDN19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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