A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274201



Internal ID22132783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:108395728..108411647hg38UCSC Ensembl
Outerchr4:109316884..109332803hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220293
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274201
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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