A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431179



Internal ID22173622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1076134..1076201hg38UCSC Ensembl
chr16:1126134..1126201hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286241
Supporting Variants
SamplesHG00514
Known GenesSSTR5, SSTR5-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431179
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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