A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278519



Internal ID22122563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:45587691..45621289hg38UCSC Ensembl
Outerchr7:45627290..45660888hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220728
Supporting Variants
SamplesHG00512
Known GenesADCY1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278519
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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