A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17548762



Internal ID21873117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78208009..78208009hg38UCSC Ensembl
chr5:77503833..77503833hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6066166
Supporting Variants
Samples
Known GenesAP3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17548762
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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