A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429047



Internal ID207905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67358488..67366323hg38UCSC Ensembl
chr1:67824171..67832006hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387836
hg197836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906190
Samples
Known GenesIL12RB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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