A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265452



Internal ID22134874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:174924168..174937944hg38UCSC Ensembl
Outerchr1:174893305..174907081hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381132
hg191132
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223970
Supporting Variants
SamplesHG00513
Known GenesRABGAP1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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