A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14398348



Internal ID22324686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1007859..1007933hg38UCSC Ensembl
chr4:1001647..1001721hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189859
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14398348
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