A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434704



Internal ID22177725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2627388..2627528hg38UCSC Ensembl
chr4:2629115..2629255hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189353
Supporting Variants
SamplesHG00514
Known GenesFAM193A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434704
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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