A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249239



Internal ID22377220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:39811724..40043783hg38UCSC Ensembl
Outerchr9:41956742..42188801hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3811295
hg1911295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281335, nssv14281336
SamplesHG00512, NA19239
Known GenesKGFLP2, LOC643648
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249239
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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