A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14314892



Internal ID22293220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37851964..37851964hg38UCSC Ensembl
chr4:37853585..37853585hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563747
Supporting Variants
SamplesNA19240
Known GenesPGM2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14314892
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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