A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232963



Internal ID22372637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58460108..58460178hg38UCSC Ensembl
chr18:56127340..56127410hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457277, nssv14432084
SamplesHG00733, HG00514
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)nsv3232963
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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