A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468778



Internal ID246569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138964846..138964923hg38UCSC Ensembl
chr5:138300535..138300612hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976074
Samples
Known GenesSIL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468778
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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