A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550375



Internal ID323936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24668151..24668151hg38UCSC Ensembl
chr1:24994642..24994642hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902376
Samples
Known GenesSRRM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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