A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471130



Internal ID248874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171027..138171397hg38UCSC Ensembl
chr6:138492164..138492534hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971097
Samples
Known GenesKIAA1244
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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