A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411056



Internal ID22325824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16266087..16266162hg38UCSC Ensembl
chr6:16266318..16266393hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3284599
Supporting Variants
SamplesNA19240
Known GenesGMPR
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)nssv14411056
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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