A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425220



Internal ID204192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166944142..166945393hg38UCSC Ensembl
chr1:166913379..166914630hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381252
hg191252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891591
Samples
Known GenesILDR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425220
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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