A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265297



Internal ID22266969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204625098..204631304hg38UCSC Ensembl
Outerchr1:204594226..204600432hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812611
hg1912611
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220264
Supporting Variants
SamplesNA19238
Known GenesLRRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265297
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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