A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434637



Internal ID22177648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123695405..123695645hg38UCSC Ensembl
chr3:123414252..123414492hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3175225
Supporting Variants
SamplesHG00514
Known GenesMYLK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14434637
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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