A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968509



Internal ID46324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78040111..78041651hg38UCSC Ensembl
chr5:77335935..77337475hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381541
hg191541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462877
Supporting Variants
Samples
Known GenesAP3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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