A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391566



Internal ID22306955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156586465..156586465hg38UCSC Ensembl
chr1:156556257..156556257hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541010
Supporting Variants
SamplesNA19240
Known GenesTTC24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391566
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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