A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400404



Internal ID22324779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42936148..42936224hg38UCSC Ensembl
chr6:42903886..42903962hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3185753
Supporting Variants
SamplesNA19240
Known GenesCNPY3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400404
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer