A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392600



Internal ID22288074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43734216..43739189hg38UCSC Ensembl
chr18:41314181..41319154hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384974
hg194974
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204743
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)nssv14392600
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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