A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6330n152



Internal ID22822033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195668712..196006471hg38UCSC Ensembl
chr3:195395583..195733342hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38337760
hg19337760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3218218, nsv3217215
SamplesNA19238, NA19239, HG00733
Known GenesMIR570, MIR6829, MUC20, MUC4, SDHAP1, SDHAP2, TNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6330n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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