A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425771



Internal ID22165828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29557191..29560473hg38UCSC Ensembl
chr13:30131328..30134610hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383283
hg193283
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194920
Supporting Variants
SamplesHG00514
Known GenesSLC7A1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425771
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