A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553315



Internal ID22422198
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 StatusM
Merged Variants
Supporting Variantsnssv14379538
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)nsv3553315
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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