A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556984



Internal ID330102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97928928..97928963hg38UCSC Ensembl
chr9:100691210..100691245hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381236
hg191236
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026861
Samples
Known GenesHEMGN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556984
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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