A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544471



Internal ID318611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:38062421..38062421hg38UCSC Ensembl
chr9:38062418..38062418hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022869
Samples
Known GenesSHB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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