A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415009



Internal ID22150495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70444793..70444793hg38UCSC Ensembl
chr10:72204549..72204549hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3556085
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14415009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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