A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467972



Internal ID245780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1060733..1061096hg38UCSC Ensembl
chr5:1060848..1061211hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961619
Samples
Known GenesSLC12A7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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