A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278565



Internal ID22121311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138577425..138688939hg38UCSC Ensembl
Outerchr7:138262170..138373684hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382249
hg192249
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226884
Supporting Variants
SamplesHG00512
Known GenesSVOPL, TRIM24
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278565
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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