A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14446712



Internal ID22224616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50822282..50822359hg38UCSC Ensembl
chr18:48348652..48348729hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203127
Supporting Variants
SamplesHG00733
Known GenesMRO
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14446712
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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