A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222156



Internal ID22366321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195471687..195524430hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3831608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271428, nssv14271431, nssv14271432, nssv14271429, nssv14271433, nssv14271430, nssv14271435, nssv14271426
SamplesHG00512, NA19238, NA19239, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222156
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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