A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267171



Internal ID22313842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13069830..13117658hg38UCSC Ensembl
Outerchr21:14442151..14489979hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg384667
hg194667
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241012
Supporting Variants
SamplesNA19240
Known GenesANKRD30BP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267171
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