A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14284149



Internal ID22141845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112407862..112408242hg38UCSC Ensembl
chr1:112950484..112950864hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205345
Supporting Variants
SamplesHG00513
Known GenesCTTNBP2NL
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14284149
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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