A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250249



Internal ID22377481
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 StatusM
Merged Variants
Supporting Variantsnssv14406044
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)nsv3250249
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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