A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373988



Internal ID22320306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124471440..124475040hg38UCSC Ensembl
chr10:126160009..126163609hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224564
Supporting Variants
SamplesNA19240
Known GenesLHPP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373988
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