A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14315570



Internal ID22190531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113585653..113585653hg38UCSC Ensembl
chr4:114506809..114506809hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563672
Supporting Variants
SamplesHG00731
Known GenesCAMK2D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14315570
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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