A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464399



Internal ID242277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97142604..97142730hg38UCSC Ensembl
chr6:97590480..97590606hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986941
Samples
Known GenesMIR548H3, MMS22L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464399
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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