A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444726



Internal ID22240680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67619451..67619451hg38UCSC Ensembl
chr16:67653354..67653354hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3554894
Supporting Variants
SamplesHG00733
Known GenesCTCF
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14444726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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