A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198699



Internal ID22348391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177442146..177464838hg38UCSC Ensembl
Outerchr4:178363300..178385992hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3822693
hg1922693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274473, nssv14274472
SamplesNA19239, NA19240
Known GenesAGA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198699
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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