A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220728



Internal ID22365339
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278520, nssv14278523, nssv14278519, nssv14278521, nssv14278524, nssv14278522, nssv14278526, nssv14278525
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesADCY1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220728
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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