A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14355621



Internal ID22195810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91209468..91209806hg38UCSC Ensembl
chr10:92969225..92969563hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520672
Supporting Variants
SamplesHG00731
Known GenesPCGF5
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)nssv14355621
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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