A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14425700



Internal ID22165729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157139720..157139720hg38UCSC Ensembl
chr5:156566731..156566731hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522680
Supporting Variants
SamplesHG00514
Known GenesMED7
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14425700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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