A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427071



Internal ID205985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168196398..168196458hg38UCSC Ensembl
chr1:168165636..168165696hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892111
Samples
Known GenesTIPRL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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