A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469710



Internal ID247487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44951148..44960576hg38UCSC Ensembl
chr5:44951250..44960678hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg389429
hg199429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965472
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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