A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14421601



Internal ID22159747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49615986..49615986hg38UCSC Ensembl
chr20:48232523..48232523hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3553677
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14421601
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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