A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241803



Internal ID22375075
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261421
SamplesNA19238
Known GenesCASKIN2, KIAA0195, MIR6785
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241803
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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