A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225020



Internal ID22364718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206455602..206477591hg38UCSC Ensembl
Outerchr1:206628948..206650934hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272469
SamplesHG00512
Known GenesIKBKE, MIR6769B, SRGAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225020
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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