A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466688



Internal ID22218932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165559372..165559564hg38UCSC Ensembl
chr1:165528609..165528801hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180383
Supporting Variants
SamplesHG00733
Known GenesLOC400794, LRRC52
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466688
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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