A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399885



Internal ID22310367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142000088..142000088hg38UCSC Ensembl
chr5:141379653..141379653hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383482
hg193482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533121
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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