A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425353



Internal ID22165199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129454..53129932hg38UCSC Ensembl
chr1:53595126..53595604hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184895
Supporting Variants
SamplesHG00514
Known GenesSLC1A7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425353
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