A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14424907



Internal ID22164548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86958098..86958565hg38UCSC Ensembl
chr4:87879250..87879717hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187499
Supporting Variants
SamplesHG00514
Known GenesAFF1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14424907
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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