A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220365



Internal ID22365079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150166226..150169939hg38UCSC Ensembl
Outerchr6:150487362..150491075hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279405, nssv14279404, nssv14279403
SamplesHG00512, HG00731, HG00732
Known GenesPPP1R14C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220365
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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