A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467375



Internal ID245189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38574023..38575015hg38UCSC Ensembl
chr6:38541799..38542791hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38993
hg19993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983658
Samples
Known GenesBTBD9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467375
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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