A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257578



Internal ID22191465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:88222594..88237248hg38UCSC Ensembl
Outerchr1:88688277..88702931hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3814655
hg1914655
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201074
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257578
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