A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446933



Internal ID22242593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2885980..2886210hg38UCSC Ensembl
chr18:2885978..2886208hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197613
Supporting Variants
SamplesHG00733
Known GenesEMILIN2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446933
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