A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220705



Internal ID22365325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152293657..152316019hg38UCSC Ensembl
Outerchr1:152266133..152288495hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271948, nssv14271949, nssv14271947, nssv14271946
SamplesHG00512, HG00731, HG00732, HG00733
Known GenesFLG, FLG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220705
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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