A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440068



Internal ID218590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182577168..182578710hg38UCSC Ensembl
chr1:182546303..182547845hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892809
Samples
Known GenesRNASEL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440068
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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