A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197760



Internal ID22347600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179552551..179558707hg38UCSC Ensembl
Outerchr1:179521686..179527842hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386157
hg196157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257193
SamplesHG00731
Known GenesAXDND1, NPHS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197760
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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