A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256616



Internal ID22283904
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245604
Supporting Variants
SamplesNA19239
Known GenesAMER2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256616
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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