A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318072



Internal ID22281240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242521617..242521617hg38UCSC Ensembl
chr1:242684919..242684919hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561807
Supporting Variants
SamplesNA19239
Known GenesPLD5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318072
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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