A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230024



Internal ID22371681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98224340..98248489hg38UCSC Ensembl
Outerchr7:97853652..97877801hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279502, nssv14279503, nssv14279501
SamplesHG00512, HG00731, HG00513
Known GenesTECPR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230024
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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