A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14310211



Internal ID22280634
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
SamplesNA19239
Known GenesCHRD, THPO
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14310211
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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