A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428509



Internal ID207378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111298531..111338190hg38UCSC Ensembl
chr1:111841153..111880812hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3839660
hg1939660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907654
Samples
Known GenesCHIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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