A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245604



Internal ID22376194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25152743..25178456hg38UCSC Ensembl
Outerchr13:25726881..25752594hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256614, nssv14256613, nssv14256615, nssv14256612, nssv14256616
SamplesNA19238, NA19239, HG00732, HG00513, HG00514
Known GenesAMER2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245604
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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