A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267532



Internal ID22258477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64172121..64182623hg38UCSC Ensembl
Outerchr20:62803474..62813976hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381139
hg191139
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236703
Supporting Variants
SamplesNA19238
Known GenesMYT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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