A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443393



Internal ID22239519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255722..52255722hg38UCSC Ensembl
chr15:52547919..52547919hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557324
Supporting Variants
SamplesHG00733
Known GenesMYO5C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443393
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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