A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3295757



Internal ID22388451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50384649..50384905hg38UCSC Ensembl
chr18:47911019..47911275hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406121
SamplesNA19240
Known GenesSKA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3295757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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