A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262169



Internal ID22133788
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233126
Supporting Variants
SamplesHG00513
Known GenesMSI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262169
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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