A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14406690



Internal ID22317290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13782615..13782681hg38UCSC Ensembl
chr17:13685932..13685998hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285867
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)nssv14406690
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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