A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459521



Internal ID22212071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49742433..49742501hg38UCSC Ensembl
chr10:50950479..50950547hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212979
Supporting Variants
SamplesHG00733
Known GenesOGDHL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14459521
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer