A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14288258



Internal ID22253913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4342051..4344000hg38UCSC Ensembl
chr1:4402111..4404060hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381950
hg191950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199051
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14288258
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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