A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434539



Internal ID213212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212117219..212117922hg38UCSC Ensembl
chr1:212290561..212291264hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895724
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434539
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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