A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197333



Internal ID22347230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965957..53966045hg38UCSC Ensembl
chr10:55725717..55725805hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381330, nssv14454597, nssv14437167
SamplesNA19240, HG00733, HG00514
Known GenesPCDH15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197333
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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