A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225664



Internal ID22368726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5976848..6008172hg38UCSC Ensembl
Outerchr1:6036908..6068232hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273411
SamplesHG00514
Known GenesKCNAB2, NPHP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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