A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222075



Internal ID22366266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78397290..78397393hg38UCSC Ensembl
chr17:76393371..76393474hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282462, nssv14282463
SamplesNA19239, NA19240
Known GenesPGS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222075
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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