A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257262



Internal ID22191015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:193202064..193257527hg38UCSC Ensembl
Outerchr1:193171194..193226657hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3855464
hg1955464
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192356
Supporting Variants
SamplesHG00731
Known GenesCDC73
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257262
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