A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423856



Internal ID202864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12642731..12652139hg38UCSC Ensembl
chr1:12702752..12712158hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389409
hg199407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894362
Samples
Known GenesAADACL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423856
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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