A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265181



Internal ID22257883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220637144..220652851hg38UCSC Ensembl
Outerchr2:221501864..221517571hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213237
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265181
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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