A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549482



Internal ID323136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17700051..17700051hg38UCSC Ensembl
chr9:17700049..17700049hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17021690
Samples
Known GenesSH3GL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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