A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361620



Internal ID22262068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24289446..24289754hg38UCSC Ensembl
chr12:24442380..24442688hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3184466
Supporting Variants
SamplesNA19238
Known GenesSOX5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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