A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440288



Internal ID218802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212907762..212908676hg38UCSC Ensembl
chr1:213081104..213082018hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895764
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440288
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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