A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260607



Internal ID22222333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30742354..30795990hg38UCSC Ensembl
Outerchr17:29069372..29123008hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381973
hg191973
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248570
Supporting Variants
SamplesHG00733
Known GenesCRLF3, SUZ12P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260607
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