A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247201



Internal ID22376644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71420152..71426246hg38UCSC Ensembl
Outerchr10:73179909..73186003hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252634, nssv14252635
SamplesNA19238, HG00732
Known GenesCDH23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247201
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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