A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257528



Internal ID22323682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35737213..35767911hg38UCSC Ensembl
Outerchr13:36311350..36342048hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234437
Supporting Variants
SamplesNA19240
Known GenesMIR548F5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257528
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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