A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395593



Internal ID22299372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63028720..63028720hg38UCSC Ensembl
chr20:61660072..61660072hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382169
hg192169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3546954
Supporting Variants
SamplesNA19240
Known GenesLOC63930
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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