A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430823



Internal ID209618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172408254..172408324hg38UCSC Ensembl
chr1:172377394..172377464hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891954
Samples
Known GenesDNM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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