A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408401



Internal ID22293877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225035588..225035649hg38UCSC Ensembl
chr2:225900305..225900366hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210264
Supporting Variants
SamplesNA19240
Known GenesDOCK10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408401
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