A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277593



Internal ID22259961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:171382018..171388648hg38UCSC Ensembl
Outerchr5:170809022..170815652hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3811984
hg1911984
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227458
Supporting Variants
SamplesNA19238
Known GenesMIR3912, NPM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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