A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231661



Internal ID22372292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88667259..88672058hg38UCSC Ensembl
Outerchr16:88733667..88738466hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260867, nssv14260865, nssv14260868, nssv14260866, nssv14260864
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesSNAI3-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231661
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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