A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196662



Internal ID22346637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148363887..148445599hg38UCSC Ensembl
Outerchr4:149285039..149366751hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3881713
hg1981713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272860
SamplesHG00732
Known GenesNR3C2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196662
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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