A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265256



Internal ID22186437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177698492..177733848hg38UCSC Ensembl
Outerchr2:178563220..178598576hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3835357
hg1935357
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205849
Supporting Variants
SamplesHG00731
Known GenesPDE11A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265256
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