A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208530



Internal ID22356759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55687190..55687300hg38UCSC Ensembl
chr16:55721102..55721212hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392468, nssv14444679, nssv14418938
SamplesNA19240, HG00733, HG00514
Known GenesSLC6A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208530
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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