A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297290



Internal ID22185502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182741188..182741314hg38UCSC Ensembl
chr1:182710323..182710449hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207539
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297290
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