A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3550716



Internal ID22419638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1075987..1075987hg38UCSC Ensembl
chr16:1125987..1125987hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444588
SamplesHG00733
Known GenesSSTR5, SSTR5-AS1
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)nsv3550716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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