A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228055



Internal ID22370359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48120225..48120527hg38UCSC Ensembl
chr17:46197587..46197889hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3584n152
Supporting Variantsnssv14404966
SamplesNA19240
Known GenesSNX11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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