A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449583



Internal ID22244869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:5558988..5558988hg38UCSC Ensembl
chr7_gl000195_random:81366..81366hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg385020
hg195020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551509
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14449583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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