A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244369



Internal ID22375840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30550489..30587459hg38UCSC Ensembl
Outerchr17:28877507..28914477hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260603, nssv14260605, nssv14260604
SamplesNA19238, HG00732, NA19240
Known GenesLRRC37BP1, TBC1D29
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244369
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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