A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445247



Internal ID223603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239693307..239703662hg38UCSC Ensembl
chr1:239856607..239866962hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3810356
hg1910356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897586
Samples
Known GenesCHRM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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