A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549943



Internal ID323549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56558309..56558309hg38UCSC Ensembl
chr12:56952093..56952093hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057668
Samples
Known GenesRBMS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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