A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417507



Internal ID22153763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64822368..64822524hg38UCSC Ensembl
chr14:65289086..65289242hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208777
Supporting Variants
SamplesHG00514
Known GenesSPTB
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14417507
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