A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265703



Internal ID22260114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240169763..240188971hg38UCSC Ensembl
Outerchr1:240333063..240352271hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211265
Supporting Variants
SamplesNA19238
Known GenesFMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265703
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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