A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256669



Internal ID22311403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40172285..40236574hg38UCSC Ensembl
Outerchr13:40746422..40810711hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381752
hg191752
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231402
Supporting Variants
SamplesNA19240
Known GenesLINC00332, LINC00548
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256669
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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