A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197917



Internal ID22347730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30005145..30005455hg38UCSC Ensembl
chr16:30016466..30016776hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445953
SamplesHG00733
Known GenesINO80E
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197917
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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