A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451639



Internal ID229816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242493081..242493776hg38UCSC Ensembl
chr1:242656383..242657078hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897675
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451639
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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