A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14309876



Internal ID22259174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2790901..2795000hg38UCSC Ensembl
chr4:2792628..2796727hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190653
Supporting Variants
SamplesNA19238
Known GenesSH3BP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14309876
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer