A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14437167



Internal ID22180367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965957..53966045hg38UCSC Ensembl
chr10:55725717..55725805hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197333
Supporting Variants
SamplesHG00514
Known GenesPCDH15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14437167
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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