A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967200



Internal ID45445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78193771..78193821hg38UCSC Ensembl
chr5:77489595..77489645hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551936
Supporting Variants
Samples
Known GenesAP3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.068832


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