A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540292



Internal ID315081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224704113..224704120hg38UCSC Ensembl
chr1:224891815..224891822hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897245
Samples
Known GenesCNIH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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