A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416504



Internal ID195726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151167908..151168738hg38UCSC Ensembl
chr1:151140384..151141214hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890263
Samples
Known GenesSCNM1, TNFAIP8L2-SCNM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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