A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239486



Internal ID22374426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19707954..19713863hg38UCSC Ensembl
Outerchr17:19611267..19617176hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260581
SamplesNA19238
Known GenesSLC47A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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