A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257554



Internal ID22200820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:77696906..77709097hg38UCSC Ensembl
Outerchr13:78271041..78283232hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240985
Supporting Variants
SamplesHG00732
Known GenesMIR3665, SLAIN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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