A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249359



Internal ID22377253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34970434..34981207hg38UCSC Ensembl
Outerchr17:33297453..33308226hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260622, nssv14260618, nssv14260619, nssv14260624, nssv14260623, nssv14260621, nssv14260625, nssv14260620
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLIG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249359
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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