A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441821



Internal ID220273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212658587..212664587hg38UCSC Ensembl
chr1:212831929..212837929hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895734
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441821
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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