A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397349



Internal ID22304160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182827329..182827329hg38UCSC Ensembl
chr4:183748482..183748482hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383608
hg193608
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3542346
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)nssv14397349
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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