A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547297



Internal ID321161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125113623..125113626hg38UCSC Ensembl
chr9:127875902..127875905hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028651
Samples
Known GenesSCAI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547297
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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