A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313514



Internal ID22190034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71060695..71060844hg38UCSC Ensembl
chr4:71926412..71926561hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520885
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYC mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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