A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204254



Internal ID22353133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34926492..34926558hg38UCSC Ensembl
chr21:36298789..36298855hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458839, nssv14433318
SamplesHG00733, HG00514
Known GenesRUNX1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204254
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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