A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431710



Internal ID210477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149264250..149274793hg38UCSC Ensembl
chr1:145018393..145028943hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3810544
hg1910551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890539
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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