A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444679



Internal ID22226680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55687190..55687300hg38UCSC Ensembl
chr16:55721102..55721212hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208530
Supporting Variants
SamplesHG00733
Known GenesSLC6A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444679
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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