A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257307



Internal ID22271624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113793684..113843889hg38UCSC Ensembl
Outerchr13:114496657..114546862hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239188
Supporting Variants
SamplesNA19239
Known GenesGAS6, GAS6-AS1, TMEM255B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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