A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214472



Internal ID22361121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12426175..12454016hg38UCSC Ensembl
Outerchr18:12426174..12454015hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3827842
hg1927842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261786
SamplesHG00733
Known GenesSLMO1, SPIRE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214472
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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