A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205803



Internal ID22354439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56359898..56377267hg38UCSC Ensembl
Outerchr1:56825570..56842939hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3817370
hg1917370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258430, nssv14258428, nssv14258427, nssv14258426, nssv14258429, nssv14258431, nssv14258425
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205803
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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