A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258256



Internal ID22118528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:110349434..110387955hg38UCSC Ensembl
Outerchr13:111001781..111040302hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239203
Supporting Variants
SamplesHG00512
Known GenesCOL4A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258256
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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