A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248570



Internal ID22377025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30742354..30795990hg38UCSC Ensembl
Outerchr17:29069372..29123008hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381973
hg191973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260607, nssv14260609, nssv14260608, nssv14260610, nssv14260606
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known GenesCRLF3, SUZ12P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248570
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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