A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14410734



Internal ID22315454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:102293636..102293764hg38UCSC Ensembl
chr6:102741511..102741639hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3283595
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14410734
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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