A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458279



Internal ID236308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36436675..36436758hg38UCSC Ensembl
chr6:36404452..36404535hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981336
Samples
Known GenesPXT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458279
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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