A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464586



Internal ID242463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38243025..38243097hg38UCSC Ensembl
chr6:38210801..38210873hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980629
Samples
Known GenesBTBD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464586
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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