A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473693



Internal ID251378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60495169..60495722hg38UCSC Ensembl
chr5:59790996..59791549hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965760
Samples
Known GenesPART1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473693
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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