A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14287412



Internal ID22304666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154607729..154607811hg38UCSC Ensembl
chr1:154580205..154580287hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199439
Supporting Variants
SamplesNA19240
Known GenesADAR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14287412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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