A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14394090



Internal ID22285468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31097145..31097206hg38UCSC Ensembl
chr12:31250079..31250140hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205736
Supporting Variants
SamplesNA19240
Known GenesDDX11
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14394090
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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