A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225471



Internal ID22368588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79001065..79013260hg38UCSC Ensembl
Outerchr17:76997147..77009342hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812196
hg1912196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261500, nssv14261499
SamplesNA19238, HG00513
Known GenesCANT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225471
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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