A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206354



Internal ID22354909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186548847..186549224hg38UCSC Ensembl
chr4:187470001..187470378hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317582
SamplesHG00512
Known GenesMTNR1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206354
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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