A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237990



Internal ID22374027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30069607..30085029hg38UCSC Ensembl
Outerchr17:28396625..28412047hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261142
SamplesNA19239
Known GenesEFCAB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237990
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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