A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14447815



Internal ID22243359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38815906..38816108hg38UCSC Ensembl
chr1:39281578..39281780hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3179776
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14447815
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