A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283041



Internal ID22381380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57127182..57127256hg38UCSC Ensembl
chr3:57161210..57161284hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14407748
SamplesNA19240
Known GenesIL17RD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283041
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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