A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399459



Internal ID22312181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3627013..3627013hg38UCSC Ensembl
chr6:3627247..3627247hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534692
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399459
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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