A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252901



Internal ID22210487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68910811..68934974hg38UCSC Ensembl
Outerchr10:70670567..70694730hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237950
Supporting Variants
SamplesHG00732
Known GenesDDX50
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252901
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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