A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204997



Internal ID22353759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10129145..10129234hg38UCSC Ensembl
chr21:10607173..10607262hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5438n152
Supporting Variantsnssv14395163, nssv14422073
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204997
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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