A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217681



Internal ID22363258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62708260..62733575hg38UCSC Ensembl
Outerchr17:60785621..60810936hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3825316
hg1925316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261355
SamplesHG00513
Known GenesMARCH10, MIR548W
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217681
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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