A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272581



Internal ID22124467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241961196..241993293hg38UCSC Ensembl
Outerchr1:242124498..242156595hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219645
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272581
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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