A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405942



Internal ID185283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93624877..93624928hg38UCSC Ensembl
chr5:92960583..92960634hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970395
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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