A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448971



Internal ID22244348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53200154..53200154hg38UCSC Ensembl
chr20:51816693..51816693hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3555060
Supporting Variants
SamplesHG00733
Known GenesTSHZ2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14448971
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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