A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438728



Internal ID217286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195689425..195697965hg38UCSC Ensembl
chr2:196554149..196562689hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg388541
hg198541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927766
Samples
Known GenesSLC39A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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