A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452425



Internal ID230580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106078600..107921618hg38UCSC Ensembl
chr2:106695056..108538074hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381843019
hg191843019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916470
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2, UXS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452425
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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