A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232548



Internal ID22372532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90495837..90495939hg38UCSC Ensembl
chr13:91148091..91148193hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427332
SamplesHG00514
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)nsv3232548
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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