A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268603



Internal ID22188128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36858320..36888882hg38UCSC Ensembl
Outerchr22:37254362..37284924hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382975
hg192975
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231127
Supporting Variants
SamplesHG00731
Known GenesNCF4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268603
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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