A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14388529



Internal ID22268686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48854316..48857892hg38UCSC Ensembl
chr17:46931678..46935254hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215408
Supporting Variants
SamplesNA19238
Known GenesCALCOCO2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14388529
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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