A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242953



Internal ID22375432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102135210..102135370hg38UCSC Ensembl
chr14:102601547..102601707hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14405301
SamplesNA19240
Known GenesHSP90AA1
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)nsv3242953
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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