A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202498



Internal ID22351655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84244262..84262602hg38UCSC Ensembl
Outerchr1:84709945..84728285hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3818341
hg1918341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261717, nssv14261716, nssv14261719, nssv14261712, nssv14261714, nssv14261713, nssv14261715, nssv14261718
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202498
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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