A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469314



Internal ID247103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169877285..169877347hg38UCSC Ensembl
chr5:169304289..169304351hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978593
Samples
Known GenesDOCK2, FAM196B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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