A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267390



Internal ID22205378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150589670..150605026hg38UCSC Ensembl
Outerchr2:151446184..151461540hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223658
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267390
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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