A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314850



Internal ID22259764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36906470..36906810hg38UCSC Ensembl
chr4:36908092..36908432hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3181787
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314850
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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