A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14402792



Internal ID22324502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61213320..61217661hg38UCSC Ensembl
chr8:62125879..62130220hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg384342
hg194342
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188933
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14402792
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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