A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213456



Internal ID22360400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22813050..22847777hg38UCSC Ensembl
Outerchr7:22852669..22887396hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278470, nssv14278473, nssv14278469, nssv14278471, nssv14278472
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesTOMM7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213456
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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