A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14426833



Internal ID22167389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44044447..44044447hg38UCSC Ensembl
chr6:44012184..44012184hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3531661
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14426833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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