A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262306



Internal ID22255262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3034813..3114292hg38UCSC Ensembl
Outerchr18:3034811..3114290hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383858
hg193858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243226
Supporting Variants
SamplesNA19238
Known GenesMYOM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262306
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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