A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442944



Internal ID221353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112265328..112265416hg38UCSC Ensembl
chr3:111984175..111984263hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936385
Samples
Known GenesSLC9C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442944
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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