A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428392



Internal ID207263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70250720..70254567hg38UCSC Ensembl
chr1:70716403..70720250hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904082
Samples
Known GenesSRSF11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428392
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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