A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14442425



Internal ID22228994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70263434..70263564hg38UCSC Ensembl
chr10:72023190..72023320hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192892
Supporting Variants
SamplesHG00733
Known GenesNPFFR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14442425
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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