A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416357



Internal ID195585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44694590..44703766hg38UCSC Ensembl
chr1:45160262..45169438hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg389177
hg199177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902592
Samples
Known GenesC1orf228
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416357
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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