A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546758



Internal ID320671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25902094..25902094hg38UCSC Ensembl
chr1:26228585..26228585hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902422
Samples
Known GenesSTMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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