A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253041



Internal ID22129410
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237872
Supporting Variants
SamplesHG00512
Known GenesCAMK1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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