A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205068



Internal ID22353820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10296954..10310101hg38UCSC Ensembl
Outerchr1:10357012..10370159hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3813148
hg1913148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282002
SamplesNA19238
Known GenesKIF1B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205068
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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