A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204787



Internal ID22353582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144629124..144652825hg38UCSC Ensembl
Outerchr1:148680281..148865038hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3823702
hg19184758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268415, nssv14268419, nssv14268417, nssv14268418, nssv14268416
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesLOC101929780, NBPF16, PPIAL4D, PPIAL4E, PPIAL4F
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204787
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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