A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450663



Internal ID22245811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6067579..6067680hg38UCSC Ensembl
chr4:6069306..6069407hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183028
Supporting Variants
SamplesHG00733
Known GenesJAKMIP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450663
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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