A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212230



Internal ID22359546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56323270..56391659hg38UCSC Ensembl
Outerchr17:54400631..54469020hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3868390
hg1968390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261396
SamplesHG00732
Known GenesANKFN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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