A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290706



Internal ID22121413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72141601..72152000hg38UCSC Ensembl
chr2:72368730..72379129hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202329
Supporting Variants
SamplesHG00512
Known GenesCYP26B1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14290706
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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