A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438921



Internal ID22235822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157819051..157819624hg38UCSC Ensembl
chr1:157788841..157789414hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189181
Supporting Variants
SamplesHG00733
Known GenesFCRL1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438921
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