A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204019



Internal ID22352936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51615913..51647940hg38UCSC Ensembl
Outerchr1:52081585..52113612hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3832028
hg1932028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256728
SamplesHG00731
Known GenesOSBPL9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204019
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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