A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14319039



Internal ID22126137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154548821..154550886hg38UCSC Ensembl
chr4:155469973..155472038hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202586
Supporting Variants
SamplesHG00512
Known GenesPLRG1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14319039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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