A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225033



Internal ID22368287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46954232..46993466hg38UCSC Ensembl
Outerchr4:46956249..46995483hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381211
hg191211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274264, nssv14274263
SamplesHG00731, HG00733
Known GenesGABRA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225033
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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