A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193121



Internal ID22343607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101901185..102001381hg38UCSC Ensembl
Outerchr4:102822342..102922538hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38100197
hg19100197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272850
SamplesHG00732
Known GenesBANK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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