A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423422



Internal ID202443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152432000..152464793hg38UCSC Ensembl
chr1:152404476..152437269hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3832794
hg1932794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891204
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423422
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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