A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455947



Internal ID234015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39323019..39324789hg38UCSC Ensembl
chr5:39323121..39324891hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964287
Samples
Known GenesC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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