A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233126



Internal ID22372674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57377855..57397620hg38UCSC Ensembl
Outerchr17:55455216..55474981hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262169, nssv14262170
SamplesNA19238, HG00513
Known GenesMSI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233126
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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