A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305560



Internal ID22258674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202245313..202246366hg38UCSC Ensembl
chr1:202214441..202215494hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203425
Supporting Variants
SamplesNA19238
Known GenesLGR6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305560
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