A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228446



Internal ID22370624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75869862..75900058hg38UCSC Ensembl
Outerchr17:73865943..73896139hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3830197
hg1930197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260999, nssv14260998
SamplesNA19238, NA19240
Known GenesMRPL38, TRIM47, TRIM65
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228446
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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