A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230075



Internal ID22371718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246782321..246819642hg38UCSC Ensembl
Outerchr1:246945623..246982944hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811109
hg1911109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268993, nssv14268992
SamplesNA19239, NA19240
Known GenesLOC149134
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230075
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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