A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341632



Internal ID22127556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42499262..42500726hg38UCSC Ensembl
chr8:42356780..42358244hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223041
Supporting Variants
SamplesHG00512
Known GenesSLC20A2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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