A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443624



Internal ID22239711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92491978..92492133hg38UCSC Ensembl
chr12:92885754..92885909hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192203
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443624
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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