A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265397



Internal ID22146087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167195831..167212125hg38UCSC Ensembl
Outerchr1:167165068..167181362hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg384279
hg194279
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228631
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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