A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261421



Internal ID22266950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75483156..75505026hg38UCSC Ensembl
Outerchr17:73479237..73501107hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241803
Supporting Variants
SamplesNA19238
Known GenesCASKIN2, KIAA0195, MIR6785
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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