A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256192



Internal ID22200424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207113053..207121335hg38UCSC Ensembl
Outerchr1:207286398..207294680hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388283
hg198283
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194818
Supporting Variants
SamplesHG00732
Known GenesC4BPA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256192
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer