A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237872



Internal ID22373994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12400397..12423909hg38UCSC Ensembl
Outerchr10:12442396..12465908hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253042, nssv14253043, nssv14253046, nssv14253044, nssv14253045, nssv14253041
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00514
Known GenesCAMK1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237872
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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