A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471165



Internal ID248909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172971852..172987689hg38UCSC Ensembl
chr4:173893003..173908840hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3815838
hg1915838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959247
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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