A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14379538



Internal ID22292158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45374712..45374712hg38UCSC Ensembl
chr13:45948847..45948847hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg388417
hg198417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553315
Supporting Variants
SamplesNA19240
Known GenesTPT1-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14379538
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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