A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434669



Internal ID22177685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240296..1240351hg38UCSC Ensembl
chr4:1234084..1234139hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178989
Supporting Variants
SamplesHG00514
Known GenesCTBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434669
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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