A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14431998



Internal ID22174795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40089101..40092700hg38UCSC Ensembl
chr17:38245354..38248953hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219808
Supporting Variants
SamplesHG00514
Known GenesTHRA
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14431998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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