A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310206



Internal ID22167328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184377451..184390350hg38UCSC Ensembl
chr3:184095239..184108138hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3812900
hg1912900
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209360
Supporting Variants
SamplesHG00514
Known GenesCHRD, THPO
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310206
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