A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14433435



Internal ID22176365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173333856..173334177hg38UCSC Ensembl
chr2:174198584..174198905hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3187077
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14433435
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