A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14307776



Internal ID22280440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112119..220112428hg38UCSC Ensembl
chr1:220285461..220285770hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174001
Supporting Variants
SamplesNA19239
Known GenesIARS2, RNU5F-1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14307776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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