A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552370



Internal ID325737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67557961..67558012hg38UCSC Ensembl
chr8:68470196..68470247hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381295
hg191295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011835
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552370
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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