A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372618



Internal ID22294716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244167872..244167872hg38UCSC Ensembl
chr1:244331174..244331174hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539145
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)nssv14372618
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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