A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257193



Internal ID22190946
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197760
Supporting Variants
SamplesHG00731
Known GenesAXDND1, NPHS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257193
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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