A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14445953



Internal ID22241747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30005145..30005455hg38UCSC Ensembl
chr16:30016466..30016776hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197917
Supporting Variants
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)nssv14445953
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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