A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551183



Internal ID324663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177244660..177244669hg38UCSC Ensembl
chr1:177213796..177213805hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892297
Samples
Known GenesBRINP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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