A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209295



Internal ID22357398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91286973..91328341hg38UCSC Ensembl
Outerchr1:91752530..91793898hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3841369
hg1941369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256302
SamplesHG00513
Known GenesHFM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209295
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer