A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213025



Internal ID22360102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:127725259..127736122hg38UCSC Ensembl
Outerchr4:128646414..128657277hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3813174
hg1913174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274295
SamplesHG00732
Known GenesSLC25A31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213025
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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