A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219178



Internal ID22364284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30790354..30823143hg38UCSC Ensembl
Outerchr17:29117372..29150161hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3832790
hg1932790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260767, nssv14260766
SamplesNA19239, NA19240
Known GenesCRLF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219178
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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