A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399062



Internal ID22300281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75027968..75027968hg38UCSC Ensembl
chr5:74323793..74323793hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519981
Supporting Variants
SamplesNA19240
Known GenesGCNT4
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)nssv14399062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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