A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463299



Internal ID22215818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72941559..72941559hg38UCSC Ensembl
chr6:73651282..73651282hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540775
Supporting Variants
SamplesHG00733
Known GenesKCNQ5
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14463299
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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