A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396717



Internal ID176132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93842894..93842945hg38UCSC Ensembl
chr5:93178600..93178651hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970414
Samples
Known GenesFAM172A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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