A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226282



Internal ID22369137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:138108481..138138444hg38UCSC Ensembl
Outerchr3:137827323..137857286hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381915
hg191915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271557, nssv14271558, nssv14271555, nssv14271556, nssv14271554
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known GenesA4GNT, DZIP1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226282
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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