A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365928



Internal ID22145850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51580899..51580954hg38UCSC Ensembl
chr1:52046571..52046626hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524970
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365928
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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