A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198870



Internal ID22348541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44995391..45016069hg38UCSC Ensembl
Outerchr5:44995493..45016171hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3820679
hg1920679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273668, nssv14273667, nssv14273666
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198870
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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