A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204342



Internal ID22353206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83150501..83190533hg38UCSC Ensembl
Outerchr1:83616184..83656216hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3840033
hg1940033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258239
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204342
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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