A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200271



Internal ID22349747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:14107075..14120050hg38UCSC Ensembl
Outerchr1:14433570..14446545hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3812976
hg1912976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254323, nssv14254322, nssv14254327, nssv14254321, nssv14254325, nssv14254326, nssv14254324
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200271
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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