A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439076



Internal ID217622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228889843..228890390hg38UCSC Ensembl
chr1:229025590..229026137hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898283
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439076
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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