A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204933



Internal ID22353709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44306106..44306158hg38UCSC Ensembl
chr21:45725989..45726041hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5568n152
Supporting Variantsnssv14451204, nssv14423753
SamplesHG00733, HG00514
Known GenesPFKL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204933
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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