A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440994



Internal ID219485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213398001..213403890hg38UCSC Ensembl
chr1:213571344..213577233hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385890
hg195890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896135
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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