A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399168



Internal ID178561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177553672..177553723hg38UCSC Ensembl
chr2:178418400..178418451hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921160
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399168
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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