A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245102



Internal ID22376055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81241578..81290787hg38UCSC Ensembl
Outerchr17:79215378..79264587hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381654
hg191654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261995, nssv14261997, nssv14261996
SamplesNA19238, NA19240, HG00514
Known GenesSLC38A10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245102
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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