A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261374



Internal ID22184335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:14277256..14295827hg38UCSC Ensembl
Outerchr17:14180573..14199144hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3818572
hg1918572
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222950
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261374
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