A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208046



Internal ID22356348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203710147..203725109hg38UCSC Ensembl
Outerchr1:203679275..203694237hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814963
hg1914963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258362
SamplesHG00731
Known GenesATP2B4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208046
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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