A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3545332



Internal ID22414347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39850080..39850080hg38UCSC Ensembl
chr17:38006333..38006333hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446778, nssv14419502, nssv14383293
SamplesNA19240, HG00733, HG00514
Known GenesIKZF3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3545332
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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