A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14320224



Internal ID22260414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11143910..11144146hg38UCSC Ensembl
chr5:11144022..11144258hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197083
Supporting Variants
SamplesNA19238
Known GenesCTNND2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14320224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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