A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406044



Internal ID22323314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29724492..29724623hg38UCSC Ensembl
chr18:27304457..27304588hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250249
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving LTR satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14406044
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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