A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7876n152



Internal ID22823579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180492..44183286hg38UCSC Ensembl
chr6:44148229..44151023hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382795
hg192795
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3173995, nsv3183633
SamplesNA19240, HG00733
Known GenesCAPN11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7876n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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