A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14427540



Internal ID22168416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106590387..106590509hg38UCSC Ensembl
chr7:106230833..106230955hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180593
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)nssv14427540
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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