A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261435



Internal ID22260568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76871844..76877703hg38UCSC Ensembl
Outerchr17:74867926..74873785hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3850879
hg1950879
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248486
Supporting Variants
SamplesNA19238
Known GenesMGAT5B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261435
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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