A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375423



Internal ID22264206
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213739
Supporting Variants
SamplesNA19238
Known GenesTHRA
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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