A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252634



Internal ID22207041
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247201
Supporting Variants
SamplesHG00732
Known GenesCDH23
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252634
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