A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271380



Internal ID22120925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38356031..38369132hg38UCSC Ensembl
Outerchr3:38397522..38410623hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214706
Supporting Variants
SamplesHG00512
Known GenesXYLB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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