A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260861



Internal ID22201897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88657371..88674584hg38UCSC Ensembl
Outerchr16:88723779..88740992hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381713
hg191713
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241141
Supporting Variants
SamplesHG00732
Known GenesMVD, SNAI3-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260861
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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