A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402148



Internal ID22311883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101910376..101910523hg38UCSC Ensembl
chr8:102922604..102922751hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190444
Supporting Variants
SamplesNA19240
Known GenesNCALD
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402148
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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