A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304635



Internal ID22225471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207581111..207581359hg38UCSC Ensembl
chr1:207754456..207754704hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194271
Supporting Variants
SamplesHG00733
Known GenesCR1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304635
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